Left ventricular hypertrophy: hypertensive or hypertrophic cardiomyopathy? What a dilemma! A case report / Hipertrofia ventricular izquierda: ¿cardiopatía hipertensiva o miocardiopatía hipertrófica? ¡Vaya dilema! Reporte de caso

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.

Radical surgical approach to chronic suppurative osteomyelitis: Case report / Abordaje quirúrgico radical de una osteomielitis crónica supurativa: reporte de caso

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.

Relato de caso clínico de infecção odontogênica resultando em complicação cervicofacial / Reporte de caso clínico de infección odontogênica com resultado de complicación cervicofacial / Clinical case reportof odontogenic infectionresulting cervicofacial complication

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).

Síndrome de Aarskog: um relato de caso / Aarskog syndrome: a case report

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.

Absceso periamigdalino bilateral. Reporte de un caso y revisión de las controversias en el diagnóstico y tratamiento / Bilateral peritonsillar abscess. A case report and review of controversies surrounding diagnosis and management

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.

Ultrasound evaluation of diaphragm function in patients with cervical spinal cord injury: case report

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.

Successful perioperative management of a primary pulmonary arterial angiosarcoma: case report

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.

Platypnea-orthodeoxia syndrome: an intriguing perioperative hypoxemia case report

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.

Simultaneous unilateral central retinal vein occlusion and branch retinal artery occlusion after Coronavirus Disease 2019 (COVID-19) mRNA vaccine / Oclusão unilateral simultânea da veia retiniana central e artéria retiniana ramificada após vacina mRNA COVID-19

ABSTRACT A 51-year-old non-obese woman presented with a one-week history of progressive blurry vision within the inferior visual field of her left eye. Her only relevant past medical history was long-standing hypothyroidism and recent vaccination against Coronavirus Disease 2019 (COVID-19) with an mRNA vaccine 12 days before the onset of symptoms. At examination, the anterior segment was unremarkable, but the retinal fundus revealed a central retinal vein occlusion associated with a branch retinal artery occlusion of the superior temporal branch in her left eye. Ancillary tests to rule out thrombophilia, hyperviscosity, hypercoagulability, or inflammation were negative. Ultrasound tests were also negative for a cardiac or carotid origin of the branch retinal artery occlusion. At two-month follow-up, no new retinal vascular occlusive events were observed. Although the best-corrected visual acuity at presentation was 8/10 in the left eye, the final best-corrected visual acuity remained 3/10.

RESUMO Uma mulher de 51 anos, não obesa, apresentou história de uma semana de visão embaçada progressiva no campo visual inferior do olho esquerdo. Seu único histórico médico anterior relevante era hipotireoidismo de longa data e uma recente vacinação contra a Doença de Coronavírus 2019 (COVID-19), com vacina de mRNA, 12 dias antes do início dos sintomas. O exame mostrou segmento anterior normal, mas o fundo da retina revelou uma oclusão da veia central da retina associada a uma oclusão de ramo arterial da retina do ramo temporal superior no olho esquerdo. Testes auxiliares para descartar trombofilia, hiperviscosidade, hipercoagulabilidade ou inflamação apresentaram resultados negativos. Testes de ultrassom também foram negativos quanto a uma origem cardíaca ou da carótida da oclusão do ramo da artéria da retina. Após dois meses de acompanhamento, nenhum novo evento vascular oclusivo retiniano foi observado. Embora, a acuidade visual melhor corrigida na apresentação tenha sido de 8/10 no olho esquerdo, a acuidade visual final melhor corrigida permaneceu em 3/10.

Evaluation of Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum

ABSTRACT Purpose: To assess Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum and correlate with ocular surface changes. Methods: This cross-sectional study evaluated patients with xeroderma pigmentosum. All patients underwent a comprehensive and standardized interview. The best-corrected visual acuity of each eye was determined. Detailed ophthalmic examination was conducted, including biomicroscopy examination of the ocular surface, Schirmer test type I, and meibography, and fundus examination was also performed when possible. Meibomian gland dysfunction was assessed by non-contact meibography using Oculus Keratograph® 5M (OCULUS Inc., Arlington, WA, USA). Saliva samples were collected using the Oragene DNA Self-collection kit (DNA Genotek Inc., Ottawa, Canada), and DNA was extracted as recommended by the manufacturer. Factors associated with abnormal meiboscores were assessed using generalized estimating equation models. Results: A total of 42 participants were enrolled, and 27 patients underwent meibography. The meiboscore was abnormal in the upper eyelid in 8 (29.6%) patients and in the lower eyelid in 17 (62.9%). The likelihood of having abnormal meiboscores in the lower eyelid was 16.3 times greater than that in the upper eyelid. In the final multivariate model, age (p=0.001), mutation profile (p=0.006), and presence of ocular surface malignant tumor (OSMT) (p=0.014) remained significant for abnormal meiboscores. For a 1-year increase in age, the likelihood of abnormal meiboscores increased by 12%. Eyes with OSMT were 58.8 times more likely to have abnormal meiboscores than eyes without ocular surface malignant tumor. Conclusion: In the final model, age, xeroderma pigmentosum profile, previous cancer, and clinical alterations on the eyelid correlated with a meiboscore of ≥2. Meibomian gland dysfunction was common in patients with xeroderma pigmentosum, mainly in the lower eyelid. The severity of Meibomian gland dysfunction increases with age and is associated with severe eyelid changes.

Partial regression of peripapillary myelinated nerve fibers after non-arteritic anterior ischemic optic neuropathy / Regressão parcial das fibras nervosas peripapilares mielinizadas após neuropatia óptica isquêmica anterior não arterítica

ABSTRACT A 71-year-old woman presented a non-arteritic anterior ischemic optic neuropathy in an optic nerve with previously registered superonasal peripapillary myelinated nerve fibers. Her past medical history was significant for controlled systemic hypertension, hyperlipidemia, and diabetes mellitus. The physiologic cup was absent in both optic discs. Non-arteritic anterior ischemic optic neuropathy mainly affected the temporal and inferior sectors of the peripapillary retinal nerve fiber layer, as could be demonstrated by retinal nerve fiber layer optical coherence tomography and optic disc optical coherence tomography angiography. Unlike other published reports, just a slight regression of the myelinated nerve fibers was observed after 1 year of follow-up. This occurred because ischemia mainly affected the temporal and inferior peripapillary sectors, whereas myelinated nerve fibers were superonasal to the optic disc.

RESUMO Uma mulher de 71 anos de idade apresentou neuropatia óptica isquêmica anterior não arterítica no nervo óptico com fibras nervosas peripapilares mielinizadas previamente registradas. Seu histórico médico foi significativo para hipertensão arterial sistêmica controlada, hiperlipidemia e diabetes mellitus. Em ambos os discos ópticos, a tacícula fisiológica esteve ausente. A neuropatia óptica isquêmica anterior não arterítica afetou principalmente os setores temporal e inferior da camada de fibras nervosas da retina peripapilar, como demonstrado pela tomografia de coerência óptica da camada de fibras nervosas da retina e pela angiotomografia de coerência óptica do disco óptico. Ao contrário de outros relatórios publicados, apenas uma ligeira regressão das fibras nervosas mielinizadas foi observada após um ano de acompanhamento. Isto pode ser explicado pelo fato da isquemia ter afetado principalmente os setores temporal e inferior peripapilares, enquanto as fibras nervosas de mielina eram nasal superior ao disco óptico.

Artéria ulnar superficial diagnosticada por ultrassom vascular: relato de caso / Superficial ulnar artery diagnosed by vascular ultrasound: case report

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.

Conjunctival leiomyosarcoma in a patient with xeroderma pigmentosum: 5-year follow-up without recurrence / Leiomiossarcoma da conjuntiva em paciente com xeroderma pigmentoso: acompanhamento de 5 anos sem recidivas

ABSTRACT Conjunctival leiomyosarcoma is a very rare soft tissue malignancy. Herein, we describe a conjunctival leiomyosarcoma case in a patient with another rare disease, xeroderma pigmentosum. The 27-year-old single-eyed xeroderma pigmentosum patient complained of exophytic mass covering the ocular surface in her left eye. A vascular, hemorrhagic mass covering the entire ocular surface of the left eye was identified on the examination. Thus, total mass excision surgery was performed. The pathological diagnosis was compatible with conjunctival leiomyosarcoma. Additional chemotherapy, radiotherapy, or surgery were not accepted by the patient. No recurrence or metastasis was observed during the 5-year follow-up. Both primary conjunctival leiomyosarcoma and xeroderma pigmentosum are very rare diseases. Conjunctival masses in xeroderma pigmentosum patients should be approached carefully, and histopathological examination is warranted. For conjunctival leiomyosarcoma, early diagnosis, localized, unspread disease, and complete resection provide the best prognosis.

RESUMO O leiomiossarcoma da conjuntiva é um tumor ma­ligno de tecidos moles muito raro. Aqui é descrito um caso de leiomiossarcoma da conjuntiva em um paciente com xeroderma pigmentoso, que também é uma doença rara. Um paciente de 27 anos de idade com xeroderma pigmentoso de olho único queixou-se de uma massa exofítica cobrindo a superfície ocular do olho esquerdo. Ao exame, foi observada uma massa vascular hemorrágica cobrindo toda a superfície ocular do olho esquerdo. Foi realizada uma cirurgia de excisão total dessa massa. O diagnóstico patológico foi compatível com leiomiossarcoma da conjuntiva. O paciente recusou qualquer quimioterapia, radioterapia ou cirurgia adicional. Nenhuma recidiva ou metástase foi observada durante o acompanhamento de 5 anos. Tanto o leiomiossarcoma primário da conjuntiva quanto o xeroderma pigmentoso são doenças muito raras. Massas conjuntivais em pacientes com xeroderma pigmentoso devem ser abordadas com cuidado e deve-se realizar um exame histopatológico. Para o leiomiossarcoma conjuntival, o diagnóstico precoce, uma doença localizada e não disseminada e a ressecção completa proporcionam o melhor prognóstico.

Retinal vein and artery occlusion as the first manifestation of primary antiphospholipid syndrome in a pediatric patient / Oclusão arterial e venosa como primeira manifestação da síndrome antifosfolipide primária em criança

ABSTRACT Antiphospholipid syndrome is an acquired autoimmune disease characterized by hypercoagulability associated with recurrent venous and arterial thromboembolism in the presence of antiphospholipid antibodies. Herein, we report a case of rapid sequential retinal vein and artery occlusion as the first manifestation of a primary antiphospholipid syndrome triggered by an acute Mycoplasma infection in a previously healthy 11-year-old patient. On day 1, ophthalmoscopy revealed a central retinal vein occlusion. The patient developed temporal branch retinal artery occlusion the next day. On day 3, a central retinal artery occlusion was observed. Serum lupus anticoagulant, immunoglobulin (Ig) G anticardiolipin, IgG anti-β2-glycoprotein 1 antibody, and Mycoplasma pneumoniae IgM antibody levels were increased. Thus, retinal vascular occlusions can be the first manifestation of primary antiphospholipid syndrome. Although it may not improve visual prognosis, prompt diagnosis and treatment are essential to avoid further significant morbidity.

RESUMO A síndrome antifosfolipide é uma doença autoimune adquirida caracterizada por hipercoagulabilidade associada a tromboembolismo venoso e arterial recorrente na presença de anticorpos antifosfolipídicos. Aqui, relatamos um caso clínico de oclusão sequencial de veia e artéria da retina como primeira manifestação de uma síndrome antifosfolipíde primária desen­cadeada por uma infeção aguda por Mycoplasma num paciente de 11 anos previamente saudável. No primeiro dia, a oftalmoscopia revelou uma oclusão da veia central da retina. No dia seguinte, o paciente desenvolveu uma oclusão do ramo temporal da artéria central da retina. No terceiro dia, uma oclusão da artéria central da retina foi diagnosticada. Os níveis de anticoagulante lúpico sérico, anticorpos IgG anticardiolipina e IgG anti-β2-glicoproteína 1 e anticorpos IgM para Mycoplasma pneumoniae estavam aumentados. As oclusões vasculares retinianas podem ser a primeira manifestação da síndrome antifosfolipíde primária. Apesar do prognóstico visual ser reservado, o seu diagnóstico e o tratamento imediatos são essenciais para evitar outras morbilidades associadas.

Craniorachischisis in a 33-week-old female fetus: A case report

@#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.

A case report of the first Filipino infant diagnosed with cystic fibrosis through the Philippine Newborn Screening Program

@#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.

Descending aortic intramural hematoma with pulmonary embolism: A case report / 中国胸心血管外科临床杂志

@#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.

Autologous ilium graft combination with titanium plate for sternal reconstruction: A case report / 中国胸心血管外科临床杂志

@#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.

Echo-guiding percutaneous aortic stent implantation for coarctation of the aortic: A case report / 中国胸心血管外科临床杂志

@#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.

Renal cell carcinoma, clear cell type with secondary polycythemia in a young Filipino male: A case report

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.