Your browser doesn't support javascript.
loading
Montrer: 20 | 50 | 100
Résultats 1 - 20 de 228
Filtrer
1.
Sci Rep ; 14(1): 13395, 2024 06 11.
Article de Anglais | MEDLINE | ID: mdl-38862533

RÉSUMÉ

The shock index (SI) has been associated with predicting transfusion needs in trauma patients. However, its utility in penetrating thoracic trauma (PTTrauma) for predicting the Critical Administration Threshold (CAT) has not been well-studied. This study aimed to evaluate the prognostic value of SI in predicting CAT in PTTrauma patients and compare its performance with the Assessment of Blood Consumption (ABC) and Revised Assessment of Bleeding and Transfusion (RABT) scores. We conducted a prognostic type 2, single-center retrospective observational cohort study on patients with PTTrauma and an Injury Severity Score (ISS) > 9. The primary exposure was SI at admission, and the primary outcome was CAT. Logistic regression and decision curve analysis were used to assess the predictive performance of SI and the PTTrauma score, a novel model incorporating clinical variables. Of the 620 participants, 53 (8.5%) had more than one CAT. An SI > 0.9 was associated with CAT (adjusted OR 4.89, 95% CI 1.64-14.60). The PTTrauma score outperformed SI, ABC, and RABT scores in predicting CAT (AUC 0.867, 95% CI 0.826-0.908). SI is a valuable predictor of CAT in PTTrauma patients. The novel PTTrauma score demonstrates superior performance compared to existing scores, highlighting the importance of developing targeted predictive models for specific injury patterns. These findings can guide clinical decision-making and resource allocation in the management of PTTrauma.


Sujet(s)
Transfusion sanguine , Blessures du thorax , Humains , Mâle , Femelle , Transfusion sanguine/méthodes , Adulte , Études rétrospectives , Blessures du thorax/thérapie , Adulte d'âge moyen , Pronostic , Score de gravité des lésions traumatiques , Plaies pénétrantes/thérapie , Hémorragie/thérapie , Hémorragie/étiologie , Hémorragie/diagnostic , Choc/thérapie , Choc/étiologie , Choc/diagnostic
2.
Cureus ; 16(4): e57520, 2024 Apr.
Article de Anglais | MEDLINE | ID: mdl-38707094

RÉSUMÉ

Background The thoracic ultrasound (TUS) is a monitoring tool that has gained worldwide popularity in various scenarios, offering the opportunity for dynamic, bedside evaluations. Recent studies indicate that the use of TUS enables the diagnosis of pathologies resulting from blunt chest trauma (BCT), yielding favorable outcomes. This study aimed to compare the utility of TUS versus chest radiography (CXR) in diagnosing pulmonary pathologies resulting from closed-chest traumas. Methodology A prospective cross-sectional study was conducted with a sample of 58 patients diagnosed with BCT who sought emergency care at the "Dr. Luis Razetti" University Hospital in Barcelona, Venezuela, from November 2023 to January 2024. Results Of the patients, 75.9% (n = 44) were male, with an average age of 37.8 years (standard deviation = 18.4 years). Injuries were reported in 8.6% (n = 5) of the patients, including 60% (n = 3) pneumothorax and 40% (n = 2) hemothorax. Ultrasound results coincided with CXR in 94.8% (n = 55) of the cases, with a Cohen's kappa coefficient of 0.9 (95% confidence interval (CI) = 0.642-1.0). TUS demonstrated higher sensitivity than CXR (100% vs. 60%) for detecting hemothorax and pneumothorax in patients with BCT, with an area under the receiver operating characteristic curve of 0.991 (95% CI = 0.968-1.013). Conclusions BCT predominantly occurred in young males, resulting primarily in pneumothorax and hemothorax lesions, detectable with higher sensitivity through TUS compared to CXR. The use of TUS should be considered an essential component of the initial assessment for individuals with BCT.

3.
Int J Surg Case Rep ; 119: 109706, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38678998

RÉSUMÉ

INTRODUCTION: Lipoabdominoplasty is one of the most common abdominal body contouring procedures performed today; however, it carries the risk of significant complications. Pneumothorax is a rare complication of liposuction, while, venous thromboembolism has a low short-term mortality and long-term morbidity. PRESENTATION OF CASE: A 57-year-old woman with a history of diabetes mellitus, hypertension, obesity, and severe COVID-19 three years earlier. The patient underwent 360-degree liposuction and abdominoplasty. In the immediate postoperative period, the patient developed a right pneumothorax and followed by deep vein thrombosis (DVT) and pulmonary embolism (PE), which were diagnosed and treated early. After six months of follow-up, the patient presented a complete recovery. DISCUSSION: Pneumothorax is recognized as a rare complication of liposuction and has been limited to case reports and small case series in the medical literature with an incidence of 0.04 %. In plastic and aesthetic surgery, body contouring procedures such as lipoabdominoplasty are associated with a risk of DVT and PE of 0.2-0.6 %, and 0.3 %, respectively. In addition, we believe that performing combined aesthetic procedures may increase the risk of complications. CONCLUSION: This is the first reported case of pneumothorax, DVT and PE after body contouring surgery. We highlight the importance of awareness of these complications and the need for a high index of suspicion for early diagnosis and treatment, which is critical for patient survival.

6.
Cureus ; 16(2): e54941, 2024 Feb.
Article de Anglais | MEDLINE | ID: mdl-38544599

RÉSUMÉ

A pneumothorax is a medical condition characterized by the presence of free air in the pleural cavity. Pneumothorax can be classified as spontaneous, traumatic, or iatrogenic. Spontaneous pneumothorax sustained from a jiu-jitsu-induced blunt trauma has not been described in any sports literature. This case report involves a 26-year-old male athlete who presented to the emergency room complaining of right-sided chest pain in the recumbent position and shortness of breath upon exertion. Breath sounds were diminished on the right with hyper resonance to percussion. Inspection of the chest revealed diffuse erythema on the right side. A chest X-ray revealed a right tension pneumothorax that was treated with a 20-French chest tube. This report aims to highlight the importance of recognizing the possibility of pneumothorax in jiu-jitsu athletes, implementing early treatment, and exploring potential causes of pneumothorax in otherwise healthy individuals.

7.
An. Fac. Med. (Perú) ; 85(1): 62-65, ene.-mar. 2024. graf
Article de Espagnol | LILACS-Express | LILACS | ID: biblio-1556802

RÉSUMÉ

RESUMEN El neumotórax espontáneo es una entidad poco frecuente, y es poco frecuente su asociación con los cambios electrocardiográficos. En estos casos, las anormalidades más frecuentes son la elevación del segmento ST, la inversión de la onda T y la pobre progresión de la onda R en derivaciones precordiales. Presentamos el caso de un varón de 25 años quien presentó un neumotórax espontáneo izquierdo, a su ingreso el paciente tuvo un electrocardiograma con infradesnivel en el segmento ST en derivaciones inferiores, hallazgos que resolvieron posterior al tratamiento del neumotórax con una toracotomía.


ABSTRACT Spontaneous pneumothorax is a rare entity, and its association with electrocardiographic changes is infrequent. In these cases, the most frequent abnormalities are ST-segment elevation, T-wave inversion and poor R wave progression in precordial leads. We present the case of a 25-year-old man who experienced a left spontaneous pneumothorax secondary to a subpleural bleb. Upon admission, his electrocardiogram revealed ST-segment depression in the inferior leads and aVF. These findings resolved following management of pneumothorax through thoracotomy.

8.
Rev. colomb. cir ; 39(2): 319-325, 20240220. fig
Article de Espagnol | LILACS | ID: biblio-1532716

RÉSUMÉ

Introducción. El edema pulmonar por reexpansión es una complicación poco frecuente, secundaria a una rápida reexpansión pulmonar posterior al drenaje por toracentesis o toracostomía cerrada. Al día de hoy, se ha descrito una incidencia menor al 1 % tras toracostomía cerrada, con mayor prevalencia en la segunda y tercera década de la vida. Su mecanismo fisiopatológico exacto es desconocido; se ha planteado un proceso multifactorial de daño intersticial pulmonar asociado con un desequilibrio de las fuerzas hidrostáticas. Caso clínico. Presentamos el caso de un paciente que desarrolló edema pulmonar por reexpansión posterior a toracostomía cerrada. Se hizo una revisión de la literatura sobre esta complicación. Resultados. Aunque la clínica sugiere el diagnóstico, la secuencia de imágenes desempeña un papel fundamental. En la mayoría de los casos suele ser autolimitado, por lo que su manejo es principalmente de soporte; sin embargo, se han reportado tasas de mortalidad que alcanzan hasta el 20 %, por tanto, es importante conocer los factores de riesgo y las medidas preventivas. Conclusión. El edema pulmonar de reexpansión posterior a toracostomía es una complicación rara en los casos con neumotórax, aunque es una complicación que se puede presentar en la práctica diaria, por lo cual debe tenerse en mente para poder hacer el diagnóstico y un manejo adecuado.


Introduction. Re-expansion pulmonary edema is a rare complication secondary to rapid pulmonary re-expansion after drainage by thoracentesis and/or closed thoracostomy. As of today, an incidence of less than 1% has been described after closed thoracostomy, with a higher prevalence in the second and third decades of life. Its exact pathophysiological mechanism is unknown; a multifactorial process of lung interstitial damage associated with an imbalance of hydrostatic forces has been proposed. Clinical case. We present the case of a patient who developed pulmonary edema due to re-expansion after closed thoracostomy, conducting a review of the literature on this complication. Results. Although the clinic suggests the diagnosis, the sequence of images plays a fundamental role. In most cases, it tends to be a self-limited disease, so its management is mainly supportive. However, mortality rates of up to 20% have been recorded. Therefore, it is important to identify patients with major risk factors and initiate preventive measures in these patients. Conclusions. Re-expansion pulmonary edema after thoracostomy is a rare complication in cases with pneumothorax; however, it is a complication that can occur in daily practice. Therefore, it must be kept in mind to be able to make the diagnosis and an adequate management.


Sujet(s)
Humains , Pneumothorax , Oedème pulmonaire , Maladie iatrogène , Complications postopératoires , Thoracostomie , Lésion pulmonaire aigüe
9.
J Emerg Med ; 66(3): e354-e356, 2024 Mar.
Article de Anglais | MEDLINE | ID: mdl-38267299

RÉSUMÉ

BACKGROUND: Pneumothorax is a common issue in the intensive care unit and emergency department, often diagnosed using lung ultrasound. The absence of lung sliding and the presence of the lung point sign are characteristic findings for pneumothorax. We describe a case of left pneumothorax diagnosed incidentally while performing a cardiac ultrasound through a new variant of the lung point sign. CASE REPORT: A 60-year-old patient with a medical history of diabetes, stroke, and right colon cancer underwent urgent surgical treatment for intestinal sub-occlusion. In the intensive care unit, the patient required mechanical ventilation due to shock unresponsive to fluid administration, and hemodynamic monitoring was performed using echocardiography. During systole in an apical four-chamber view, the abrupt vanishing of the heart was observed. When evaluating the tricuspid annular plane systolic excursion (TAPSE) using M-mode, the interposition of the stratosphere sign during mid-systole prevented the visualization of the TAPSE peak. Lung ultrasound revealed the absence of lung sliding and the presence of the lung point sign on the left side of the thorax, confirming the diagnosis of pneumothorax. A chest x-ray study further confirmed the diagnosis, and urgent drainage was performed. The patient showed improvement in hemodynamic and respiratory conditions and was successfully weaned from mechanical ventilation, and eventually discharged home. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: By incorporating the lung ultrasound findings, including this new variant of the lung point sign, into their diagnostic approach to pneumothorax, emergency physicians can promptly initiate appropriate intervention, such as chest tube insertion, leading to improved patient outcomes.


Sujet(s)
Pneumothorax , Humains , Adulte d'âge moyen , Pneumothorax/imagerie diagnostique , Échocardiographie , Échographie , Poumon/imagerie diagnostique , Thorax
12.
Cir Cir ; 91(6): 725-729, 2023.
Article de Anglais | MEDLINE | ID: mdl-38096880

RÉSUMÉ

OBJECTIVE: Lymphocyte-to-monocyte ratio (LMR) has been introduced as a predictor and a prognostic factor for multiple diseases. This study aimed to determine the efficiency of LMR in predicting the recurrence of spontaneous pneumothorax. MATERIALS AND METHODS: A total of 374 patients who had received chest tubes at the first episode of primary spontaneous pneumothorax were examined in terms of age, gender, side of the pneumothorax, status of recurrence, LMRs at the time of admittance and recurrence, and the interval until the recurrence. RESULTS: Recurrence was diagnosed in 106 (28.3%) patients, whereas the mean time until the recurrence was 15.32 ± 5.57 months. Significantly, the recurrence rate was higher, while the time until the relapse was shorter for patients with elevated levels of LMR. Moreover, LMR counting over 1.25 demonstrated a 70.8% sensitivity and a 94.4% specificity in predicting a potential recurrence. CONCLUSIONS: Calculation of LMR at the first episode of spontaneous pneumothorax contributes to predict a potential recurrence when combined with traditional risk factors.


OBJETIVOS: La proporción de linfocitos a monocitos (PLM) se ha introducido como un predictor y un factor pronóstico para múltiples enfermedades. Este estudio tuvo como objetivo determinar la eficiencia de LMR en la predicción de la recurrencia del neumotórax espontáneo. MATERIALES Y MÉTODOS: Un total de 374 pacientes que habían recibido tubos de tórax en el primer episodio de neumotórax espontáneo primario fueron examinados en términos de edad, género, lado del neumotórax, estado de recurrencia, PLM al momento del ingreso y recurrencia, y el intervalo hasta la recurrencia. RESULTADOS: Se diagnosticó recidiva en 106 (28.3%) pacientes, siendo el tiempo medio hasta la recidiva de 15.32 ± 5.57 meses. Significativamente, la tasa de recurrencia fue mayor, mientras que el tiempo hasta la recaída fue más corto para los pacientes con niveles elevados de PLM. Además, el recuento de PLM superior a 1.25 demostró una sensibilidad del 70.8 % y una especificidad del 94.4 % para predecir una posible recurrencia. CONCLUSIÓN: Calcular la PLM en el primer episodio de neumotórax espontáneo predice una posible recurrencia cuando se combina con los factores de riesgo tradicionales.


Sujet(s)
Pneumothorax , Humains , Pneumothorax/étiologie , Monocytes , Lymphocytes , Drains thoraciques , Facteurs de risque , Pronostic , Études rétrospectives , Récidive
13.
Rev. cir. (Impr.) ; 75(5)oct. 2023.
Article de Espagnol | LILACS-Express | LILACS | ID: biblio-1530068

RÉSUMÉ

Introducción: El neumotórax oculto (NTXO) se encuentra hasta en el 15% de los traumatismos torácicos. Existen antecedentes del manejo conservador de esta patología (sólo observación), aunque su práctica continúa siendo discutida, especialmente, en traumatismos penetrantes. El objetivo de este trabajo es describir nuestra experiencia en el manejo conservador del NTXO. Materiales y Método: Estudio de cohorte retrospectivo realizado durante un período de 3 años en un Hospital de Trauma nivel I. Se incluyeron pacientes con traumatismo torácico (cerrado o penetrante) con NTXO. Se dividieron en dos grupos (conservados o drenados), realizándose una comparación de su evolución. Resultados: En 3 años fueron admitidos con traumatismo torácico 679 pacientes. De 93 pacientes con NTXO, 74 (80%) fueron conservados inicialmente y 19 (20%) tratados con drenaje pleural. Dos (3%) presentaron progresión del neumotórax en el seguimiento radiológico (conservación fallida). No se registraron complicaciones relacionadas con la ausencia de drenaje pleural. Las complicaciones y estancia hospitalaria fueron menores en el grupo de manejo conservador. Conclusión: Pacientes con NTXO por traumatismo de tórax (cerrado o penetrante), sin requerimiento de ventilación asistida y hemodinámicamente estables, pueden manejarse de manera conservadora con un monitoreo cercano durante 24 horas en forma segura, con menor tasa de complicaciones y de estancia hospitalaria.


Background: Occult pneumothorax (OPTX) is found in up to 15% of chest injuries. There is a history of conservative management of this pathology (only observation), although its practice continues to be discussed, especially in penetrating trauma. The objective of this paper is to describe our experience in the conservative management of OPTX. Materials and Method: Retrospective cohort study conducted over a 3-year period at a level I Trauma Center. Patients with thoracic trauma (blunt or penetrating) with OPTX were included. They were divided into two groups (preserved or drained) comparing their evolution. Results: Over a 3-year period 679 patients were admitted with chest trauma. From 93 patients with OPTX, 74 (80%) were initially preserved and 19 (20%) drained. Two patients (3%) presented pneumothorax progression in the follow-up imaging. There were no complications related to the absence of pleural drainage. Complications and hospital stay were lower in the conservative management group. Conclusion: Patients with OPTX due to chest trauma (blunt or penetrating), without requiring assisted ventilation and hemodynamically stable, can be safely conservative managed with close monitoring for 24 hours, with a lower rate of complications and hospital stay.

14.
J Clin Med ; 12(17)2023 Aug 26.
Article de Anglais | MEDLINE | ID: mdl-37685644

RÉSUMÉ

INTRODUCTION: Endometriosis is a female disease that affects 5-10% of women of childbearing age, with predominantly pelvic manifestations. It is currently declared as a public health priority in France. Thoracic endometriosis syndrome (TES) is the most common extra-pelvic manifestation. OBJECTIVE: The objective of this study was to describe the epidemiological and clinical characteristics, and outcomes of patients with TES in Martinique. PATIENTS AND METHODS: We performed a descriptive, retrospective study including all patients managed at the University Hospital of Martinique for TES between 1 January 2004 and 31 December 2020. RESULTS: During the study period, we identified 479 cases of pneumothorax, of which 212 were women (44%). Sixty-three patients (30% of all female pneumothorax) were catamenial pneumothorax (CP) including 49 pneumothoraxes alone (78% of catamenial pneumothorax) and 14 hemopneumothorax (22% of catamenial pneumothorax). There were 71 cases of TES, including 49 pneumothoraxes (69%), 14 hemopneumothoraxes (20%) and 8 hemothorax (11%). The annual incidence of TES was 1.1 cases/100,000 inhabitants. The prevalence of TES was 1.2/1000 women aged from 15 to 45 years and the annual incidence of TES for this group was 6.9/100,000. The annual incidence of CP was 1 case/100,000 inhabitants. The average age at diagnosis was 36 ± 6 years. Eight patients (11%) had no prior diagnosis of pelvic endometriosis (PE). The mean age at pelvic endometriosis diagnosis was 29 ± 6 years. The mean time from symptom onset to diagnosis was 24 ± 50 weeks, and 53 ± 123 days from diagnosis to surgery. Thirty-two patients (47%) had prior abdominopelvic surgery. Seventeen patients (24%) presented other extra-pelvic localizations. When it came to management, 69/71 patients (97%) underwent surgery. Diaphragmatic nodules or perforations were found in 68/69 patients (98.5%). Histological confirmation was obtained in 55/65 patients who underwent resection (84.6%). Forty-four patients (62%) experienced recurrence. The mean time from the initial treatment to recurrence was 20 ± 33 months. The recurrence rate was 16/19 (84.2%) in patients who received medical therapy only, 11/17 (64.7%) in patients treated by surgery alone, and 17/31 (51.8%) in patients treated with surgery and medical therapy (p = 0.03). CONCLUSIONS: We observed a very high incidence of TES in Martinique. The factors associated with this high incidence in this specific geographical area remain to be elucidated. The frequency of recurrence was lower in patients who received both hormone therapy and surgery.

15.
Rev. Fac. Med. Hum ; 23(3)jul. 2023.
Article de Espagnol | LILACS-Express | LILACS | ID: biblio-1535204

RÉSUMÉ

Introducción: El neumotórax es una patología prevalente en accidentes de tipo traumático en tórax, pero que también se puede encontrar de forma espontánea por causas atribuibles enfermedad bullosa, neumonía, obstrucción de las vía aérea, malignidad, entre otras. Caso clínico: Paciente masculino joven quien debuta con neumotórax espontaneo requirió manejo en unidad de cuidados intensivos con posterior aparición de bullas en imágenes diagnósticas y patología. Discusión: El neumotórax espontaneo primario (PSP) en población joven, se ve influenciada por factores psicosociales como la edad, genero, hábitos, entorno y factores genéticos, en el 80% de los pacientes con PSP se ha demostrado presencia de bullas o blebs apicales, además de la porosidad de la pleura que suele ocurrir en adolescentes altos con cuerpos atléticos; pero también se observa que el consumo de tabaco que puede aumentar el riesgo. Conclusiones: El neumotórax espontaneo por enfisema bulloso ha incrementado en los jóvenes por el uso de sustancias psicoactivas, vapeadores, cigarrillos.


Introduction: Pneumothorax is a pathology prevalent in traumatic accidents in the thorax, but it can also be found spontaneously due to causes attributable to bullous disease, pneumonia, airway obstruction, malignancy, among others. Case report: Young male patient who debuted with spontaneous pneumothorax who required management in the intensive care unit with subsequent appearance of bullae in diagnostic images and pathology. Discussion: Primary spontaneous pneumothorax (PSP) in the young population is influenced by psychosocial factors such as age, gender, habits, environment, and genetic factors. In 80% of patients with PSP, the presence of bullae or apical blebs has been demonstrated, in addition from the porosity of the pleura that usually occurs in tall adolescents with athletic bodies; but it is also observed that tobacco use can increase the risk. Conclusions: Spontaneous pneumothorax due to bullous emphysema has increased in young people due to the use of psychoactive substances, vapers, and cigarettes.

16.
Arch. argent. pediatr ; 121(3): e202202714, jun. 2023. ilus
Article de Anglais, Espagnol | LILACS, BINACIS | ID: biblio-1436134

RÉSUMÉ

El sarcoma sinovial pleuropulmonar (SSPP) es un tumor primario de pulmón, maligno, infrecuente en pediatría (prevalencia 0,1-0,5 %) que afecta predominantemente a adolescentes y adultos jóvenes. Se ha descrito una sobrevida global cercana al 30 % a los 5 años. Se reporta el caso de un paciente de 12 años de edad, previamente sano, que presentó tos, dolor torácico y disnea de comienzo súbito, como manifestación inicial de neumotórax izquierdo, el que persistió a los 4 días y requirió resección quirúrgica de lesión bullosa pulmonar. Se realizó diagnóstico histológico de sarcoma sinovial pleuropulmonar confirmado por estudio molecular, que evidenció la translocación cromosómica entre el cromosoma X y el 18: t(X;18) (p11.2;q11.2) de la pieza quirúrgica extirpada. Ante pacientes con neumotórax persistente o recidivante, es importante descartar causas secundarias, entre ellas, sarcoma sinovial pleuropulmonar. Su ominoso pronóstico determina la necesidad de arribar a un diagnóstico temprano e implementar un tratamiento agresivo


Pleuropulmonary synovial sarcoma (PPSS) is a primary malignancy of the lung, uncommon in pediatrics (prevalence: 0.1­0.5%) that predominantly affects adolescents and young adults. Overall survival has been reported to be close to 30% at 5 years. Here we report the case of a previously healthy 12-year-old male patient who presented with cough, chest pain, and dyspnea of sudden onset as initial manifestation of left pneumothorax, which persisted after 4 days and required surgical resection of pulmonary bullous lesion. A histological diagnosis of pleuropulmonary synovial sarcoma was made and confirmed by molecular study, which showed chromosomal translocation between chromosomes X and 18: t(X;18) (p11.2;q11.2) in the surgical specimen removed. In patients with persistent or recurrent pneumothorax, it is important to rule out secondary causes, including pleuropulmonary synovial sarcoma. Such poor prognosis determines the need for early diagnosis and aggressive treatment.


Sujet(s)
Humains , Mâle , Enfant , Pneumothorax/complications , Pneumothorax/étiologie , Sarcome synovial/complications , Sarcome synovial/diagnostic , Sarcome synovial/anatomopathologie , Tumeurs du poumon/complications , Tumeurs du poumon/diagnostic , Toux , Poumon/anatomopathologie
17.
Medicina (B.Aires) ; Medicina (B.Aires);83(2): 307-314, jun. 2023. graf
Article de Anglais | LILACS-Express | LILACS | ID: biblio-1448636

RÉSUMÉ

Abstract Birt-Hogg-Dubé syndrome is a genodermatosis of auto somal dominant inheritance characterized by mutations in the folliculin (FLCN) gene. There is an inappropriate inhibition/activation of a protein, the foliculin, which may cause tumor lesions in skin, renal and lung lesions; they could have more risk of developing pneumothorax compared to the normal population. A 38-year-old male patient with bronchial asthma who consulted for hemop tysis three weeks after recovery from COVID-19 infection. A chest tomography was requested, showing an air cyst in the left lower lobe. Physical examination shows evi dence of thoracic skin lesions which a skin biopsy was performed on. The results were compatible with fibrofol liculoma. Differential diagnoses were proposed. A genetic disorder associated with skin lesions was suspected. A multi-genetic panel that includes BRCA1, BRCA2, TP53 and FLCN genes was requested, which reported the mu tation of the FLCN gene in heterozygosis classified as pathognomonic of Birt-Hogg-Dubé syndrome. Patient is currently under clinical follow-up while genetic counsel ing was requested for relatives.


Resumen El síndrome de Birt-Hogg-Dubé es una genoderma tosis de herencia autosómica dominante caracterizada por mutaciones en el gen foliculina (FLCN), donde existe inhibición/activación inapropiada de una proteína, la foliculina, que puede causar lesiones tumorales sisté micas, principalmente a nivel de la piel, renal y lesiones pulmonares, presentando mayor riesgo de desarrollar neumotórax en comparación con la población normal. Comunicamos el caso de un varón de 38 años con asma bronquial que consultó por hemoptisis 3 semanas des pués de la recuperación de la infección por COVID-19. Se solicitó una tomografía de tórax, que mostró un quiste aéreo en el lóbulo inferior izquierdo. Además, presentaba en el examen físico una lesión cutánea que fue biopsiada, presentando diagnóstico de foliculoma. Se plantearon diagnósticos diferenciales y ante la sospecha de probable desorden genético, un panel genético fue solicitado. Se confirmó síndrome de Birt-Hogg-Dubé ante el hallazgo de la deleción heterocigota que comprende el exón 1 del gen FLCN clasificada como patogénica. Actual mente el paciente se encuentra en seguimiento clínico mientras se solicitó estudio genético para familiares.

18.
Rev. am. med. respir. (En línea) ; 23(2): 105-107, jun. 2023. ilus
Article de Espagnol | LILACS, BINACIS | ID: biblio-1567395

RÉSUMÉ

La enfermedad de Fabry pertenece al grupo de enfermedades lisosomales, poco frecuentes y de origen genético. Se comporta como una enfermedad crónica, multisistémica y progresiva, que deteriora la calidad de vida y disminuye la supervivencia del paciente. La afectación pulmonar en esta enfermedad es incierta y no existen reportes en la bibliografía sobre su incidencia. Presentamos el caso de un paciente masculino con diagnóstico de enfermedad de Fabry y compromiso pulmonar(AU)


Fabry disease belongs to the group of lysosomal diseases, which are rare and of genetic origin. It behaves like a chronic, multisystemic, progressive disease that deteriorates the quality of life and decreases patient's survival.2 Lung involvement in this disease is uncertain, and there are no reports in the literature related to its incidence. We present the case of a male patient with a diagnosis of Fabry disease and lung involvement(AU)


Sujet(s)
Mâle
19.
Rev. colomb. cir ; 38(3): 439-446, Mayo 8, 2023. fig, tab
Article de Espagnol | LILACS | ID: biblio-1438420

RÉSUMÉ

Introducción. Debido a la ausencia de modelos predictivos estadísticamente significativos enfocados a las complicaciones postoperatorias en el manejo quirúrgico del neumotórax, desarrollamos un modelo, utilizando redes neurales, que identifica las variables independientes y su importancia para reducir la incidencia de complicaciones. Métodos. Se realizó un estudio retrospectivo en un centro asistencial, donde se incluyeron 106 pacientes que requirieron manejo quirúrgico de neumotórax. Todos fueron operados por el mismo cirujano. Se desarrolló una red neural artificial para manejo de datos con muestras limitadas; se optimizaron los datos y cada algoritmo fue evaluado de forma independiente y mediante validación cruzada, para obtener el menor error posible y la mayor precisión con el menor tiempo de respuesta. Resultados. Las variables de mayor importancia según su peso en el sistema de decisión de la red neural (área bajo la curva 0,991) fueron el abordaje por toracoscopia video asistida (OR 1,131), el uso de pleurodesis con talco (OR 0,994) y el uso de autosuturas (OR 0,792; p<0,05). Discusión. En nuestro estudio, los principales predictores independientes asociados a mayor riesgo de complicaciones fueron el neumotórax de etiología secundaria y el neumotórax recurrente. Adicionalmente, confirmamos que las variables asociadas a reducción de riesgo de complicaciones postoperatorias tuvieron significancia estadística. Conclusión. Identificamos la toracoscopia video asistida, el uso de autosuturas y la pleurodesis con talco como posibles variables asociadas a menor riesgo de complicaciones. Se plantea la posibilidad de desarrollar una herramienta que facilite y apoye la toma de decisiones, por lo cual es necesaria la validación externa en estudios prospectivos


Introduction. Due to the absence of statistically significant predictive models focused on postoperative complications in the surgical management of pneumothorax, we developed a model using neural networks that identify the independent variables and their importance in reducing the incidence of postoperative complications. Methods. A retrospective single-center study was carried out, where 106 patients who required surgical management of pneumothorax were included. All patients were operated by the same surgeon. An artificial neural network was developed to manage data with limited samples. The data is optimized and each algorithm is evaluated independently and through cross-validation to obtain the lowest possible error and the highest precision with the shortest response time. Results. The most important variables according to their weight in the decision system of the neural network (AUC 0.991) were the approach via video-assisted thoracoscopy (OR 1.131), use of pleurodesis with powder talcum (OR 0.994) and use of autosutures (OR 0.792, p<0.05). Discussion. In our study, the main independent predictors associated with a higher risk of complications are pneumothorax of secondary etiology and recurrent pneumothorax. Additionally, we confirm that the variables associated with a reduction in the risk of postoperative complications have statistical significance. Conclusion. We identify video-assisted thoracoscopy, use of autosuture and powder talcum pleurodesis as possible variables associated with a lower risk of complications and raise the possibility of developing a tool that facilitates and supports decision-making, for which external validation in prospective studies is necessary


Sujet(s)
Humains , Pneumothorax , Intelligence artificielle , 29935 , Complications postopératoires , Talc , Thoracoscopie
20.
Medicina (B Aires) ; 83(2): 311-314, 2023.
Article de Anglais | MEDLINE | ID: mdl-37094203

RÉSUMÉ

Birt-Hogg-Dubé syndrome is a genodermatosis of autosomal dominant inheritance characterized by mutations in the folliculin (FLCN) gene. There is an inappropriate inhibition/activation of a protein, the foliculin, which may cause tumor lesions in skin, renal and lung lesions; they could have more risk of developing pneumothorax compared to the normal population. A 38-year-old male patient with bronchial asthma who consulted for hemoptysis three weeks after recovery from COVID-19 infection. A chest tomography was requested, showing an air cyst in the left lower lobe. Physical examination shows evidence of thoracic skin lesions which a skin biopsy was performed on. The results were compatible with fibrofolliculoma. Differential diagnoses were proposed. A genetic disorder associated with skin lesions was suspected. A multi-genetic panel that includes BRCA1, BRCA2, TP53 and FLCN genes was requested, which reported the mutation of the FLCN gene in heterozygosis classified as pathognomonic of Birt-Hogg-Dubé syndrome. Patient is currently under clinical follow-up while genetic counseling was requested for relatives.


El síndrome de Birt-Hogg-Dubé es una genodermatosis de herencia autosómica dominante caracterizada por mutaciones en el gen foliculina (FLCN), donde existe inhibición/activación inapropiada de una proteína, la foliculina, que puede causar lesiones tumorales sistémicas, principalmente a nivel de la piel, renal y lesiones pulmonares, presentando mayor riesgo de desarrollar neumotórax en comparación con la población normal. Comunicamos el caso de un varón de 38 años con asma bronquial que consultó por hemoptisis 3 semanas después de la recuperación de la infección por COVID-19. Se solicitó una tomografía de tórax, que mostró un quiste aéreo en el lóbulo inferior izquierdo. Además, presentaba en el examen físico una lesión cutánea que fue biopsiada, presentando diagnóstico de foliculoma. Se plantearon diagnósticos diferenciales y ante la sospecha de probable desorden genético, un panel genético fue solicitado. Se confirmó síndrome de Birt-Hogg-Dubé ante el hallazgo de la deleción heterocigota que comprende el exón 1 del gen FLCN clasificada como patogénica. Actualmente el paciente se encuentra en seguimiento clínico mientras se solicitó estudio genético para familiares.


Sujet(s)
Syndrome de Birt-Hogg-Dubé , COVID-19 , Pneumothorax , Mâle , Humains , Adulte , Syndrome de Birt-Hogg-Dubé/diagnostic , Syndrome de Birt-Hogg-Dubé/génétique , Syndrome de Birt-Hogg-Dubé/anatomopathologie , Hémoptysie , Protéines suppresseurs de tumeurs/génétique , Pneumothorax/génétique
SÉLECTION CITATIONS
DÉTAIL DE RECHERCHE