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1.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526516

RESUMEN

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inheritable form of renal cystic disease and is associated with cysts in other organs. Prostatic cysts are rare though and have not been reported in the paediatric population. Reported is the presence of a prostatic cyst that was incidentally noted on routine sonogram in a 15 year old with ADPKD.


Asunto(s)
Quistes/diagnóstico por imagen , Riñón Poliquístico Autosómico Dominante/diagnóstico por imagen , Enfermedades de la Próstata/diagnóstico por imagen , Adolescente , Quistes/complicaciones , Humanos , Masculino , Riñón Poliquístico Autosómico Dominante/complicaciones , Enfermedades de la Próstata/complicaciones
3.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526518

RESUMEN

Immune checkpoint inhibitors (ICIs) are increasingly used to treat certain malignancies due to their higher efficacy compared with conventional chemotherapy. As familiarity with these agents increases, it is becoming apparent that a significant number of patients treated with ICIs experience adverse events. With time, more immune-related adverse events (IRAEs) are being recognised. It is important to be vigilant for IRAEs and recognise that a patient may have multiple IRAEs affecting multiple organ systems. Common cardiovascular adverse events associated with ICIs include myocarditis, arrhythmias and pericarditis. This case report identifies a patient presenting with takotsubo syndrome followed by ketoacidosis (associated with sodium-glucose transport protein 2 (SGLT2) inhibitor) in the setting of combination ipilimumab and nivolumab therapy for metastatic melanoma.


Asunto(s)
Neoplasias Encefálicas/tratamiento farmacológico , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Cetoacidosis Diabética/inducido químicamente , Melanoma/tratamiento farmacológico , Inhibidores del Cotransportador de Sodio-Glucosa 2/efectos adversos , Cardiomiopatía de Takotsubo/inducido químicamente , Anciano , Compuestos de Bencidrilo/efectos adversos , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/secundario , Angiografía Coronaria , Diabetes Mellitus Tipo 2/complicaciones , Cetoacidosis Diabética/complicaciones , Ecocardiografía , Glucósidos/efectos adversos , Humanos , Ipilimumab/efectos adversos , Imagen por Resonancia Magnética , Masculino , Melanoma/complicaciones , Melanoma/secundario , Nivolumab/efectos adversos , Cardiomiopatía de Takotsubo/complicaciones , Cardiomiopatía de Takotsubo/diagnóstico por imagen
4.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526519

RESUMEN

A 49-year-old female patient presented with acute-on-chronic chest pain. She was diagnosed with multiple systemic thromboemboli, including myocardial infarctions, bilateral chronic pulmonary emboli, ischaemic stroke, deep venous thrombosis and superficial thrombophlebitis. She had a background of sickle cell trait. Cardiac magnetic resonance showed bilateral superior vena cava (SVC). The right-sided SVC (RSVC) was joined by the right upper pulmonary vein and drained anomalously into the left atrium. This caused a small volume right to left shunt. The persistent left SVC drained into the right atrium (RA) via a dilated coronary sinus. The overall clinical impression was recurrent paradoxical emboli due to anomalous venous anatomy with a thrombophilia secondary to sickle cell trait. In the normal embryo, the right common cardinal vein develops to become the RSVC, which drains into the RA by term.


Asunto(s)
Embolia Paradójica/etiología , Infarto del Miocardio/etiología , Embolia Pulmonar/etiología , Rasgo Drepanocítico/complicaciones , Trombofilia/complicaciones , Tromboflebitis/etiología , Trombosis de la Vena/etiología , Ecocardiografía , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Venas Pulmonares/anomalías , Venas Pulmonares/diagnóstico por imagen , Recurrencia , Malformaciones Vasculares/complicaciones , Malformaciones Vasculares/diagnóstico por imagen
5.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526522

RESUMEN

A 44-year-old woman presented with decreased vision in both eyes. The retina in both eyes had drusen distributed along vascular arcades, central macula and in peripapillary region. Macula had pigmented scarring and exudation. Fundus autofluorescence showed drusen. Optical coherence tomography showed drusen, subretinal and intraretinal fluid. Fundus fluorescein and indocyanine green angiography showed drusen, retinal pigment epithelial atrophy and vascular network. Younger age at presentation, bilateral symmetry, typical distribution of drusen along the arcades in a radiating pattern, peripapillary involvement, scarring and atrophy at macula were suggestive of doyne honeycomb retinal dystrophy. The reduced vision was due to macular atrophy and an active choroidal neovascular membrane. The patient was treated with antivascular endothelial growth factor injections for choroidal neovascular membrane. Our case highlights the importance of pattern recognition and multimodal imaging for diagnosing the type of macular dystrophy as doyne honeycomb retinal dystrophy, while simultaneously managing choroidal neovascular membrane.


Asunto(s)
Neovascularización Coroidal/diagnóstico por imagen , Angiografía con Fluoresceína , Tomografía de Coherencia Óptica , Adulto , Inhibidores de la Angiogénesis/uso terapéutico , Angiografía , Neovascularización Coroidal/complicaciones , Neovascularización Coroidal/tratamiento farmacológico , Colorantes , Femenino , Fondo de Ojo , Humanos , Verde de Indocianina , Inyecciones Intravítreas , Imagen Multimodal , Drusas del Disco Óptico/complicaciones , Drusas del Disco Óptico/congénito , Drusas del Disco Óptico/diagnóstico por imagen , Ranibizumab/uso terapéutico
6.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526523

RESUMEN

Sodium-glucose cotransporter 2 (SGLT2) inhibitors, which are used for treatment of type 2 diabetes, are associated with risk of urogenital infections. FDA issued a black box warning about multiple case reports of Fournier's gangrene (FG) observed in patients taking SGLT2 inhibitors. FG is a type of necrotising fasciitis that occurs in the anogenital area. We report a case of a 71-year-old woman with type 2 diabetes on dapagliflozin, presenting with foul-smelling discharge and a large abscess in the perianal area. Her risk factors for FG included her advanced age, obesity, diabetes and trauma to the site. During her stay, dapagliflozin was discontinued and she received procedural debridement, wound care and broad-spectrum intravenous antibiotics. Due to possible association between FG and SGLT2 inhibitors, patients presenting with signs and symptoms of FG who are taking SGLT2 inhibitors should be examined for infection in the urogenital area and treated promptly.


Asunto(s)
Absceso/inducido químicamente , Accidentes por Caídas , Compuestos de Bencidrilo/efectos adversos , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Gangrena de Fournier/inducido químicamente , Glucósidos/efectos adversos , Perineo/lesiones , Inhibidores del Cotransportador de Sodio-Glucosa 2/efectos adversos , Absceso/terapia , Anciano , Antibacterianos/uso terapéutico , Desbridamiento , Diabetes Mellitus Tipo 2/complicaciones , Drenaje , Femenino , Gangrena de Fournier/terapia , Hospitales Rurales , Humanos , Hipoglucemiantes/uso terapéutico , Insulina/uso terapéutico , Linagliptina/uso terapéutico , Obesidad/complicaciones , Compuestos de Sulfonilurea/uso terapéutico
7.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526527

RESUMEN

A 57-year-old woman presented with a 5-day history of worsening right upper quadrant pain, bilious emesis and approximately 20 pounds of weight loss. The patient was afebrile, without jaundice and had mild tenderness in her right upper quadrant. She noted an incidental finding of asymptomatic cholelithiasis on imaging 4 years earlier. An abdominal radiograph revealed pneumobilia and a large ectopic calculus. An abdominal CT scan confirmed pneumobilia, a large concretion completely obstructing the third portion of the duodenum and a soft tissue communication between the gallbladder and proximal duodenum. She was brought to the operating room for definitive treatment and had the obstructing gallstone removed via a transverse duodenotomy. Bouveret syndrome is a rare cause of small bowel obstruction that requires a high index of suspicion for diagnosis. It should be considered in older patients with clinical evidence of gastric or duodenal obstruction, particularly with a history of cholelithiasis.


Asunto(s)
Obstrucción Duodenal/diagnóstico por imagen , Cálculos Biliares/diagnóstico por imagen , Fístula Intestinal/diagnóstico por imagen , Enfermedades Duodenales/complicaciones , Enfermedades Duodenales/diagnóstico por imagen , Obstrucción Duodenal/etiología , Obstrucción Duodenal/cirugía , Femenino , Enfermedades de la Vesícula Biliar/complicaciones , Enfermedades de la Vesícula Biliar/diagnóstico por imagen , Cálculos Biliares/complicaciones , Cálculos Biliares/cirugía , Humanos , Fístula Intestinal/complicaciones , Persona de Mediana Edad , Radiografía Abdominal , Tomografía Computarizada por Rayos X
8.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526528

RESUMEN

A male infant, born preterm at 32 weeks of gestation, was referred at 36-week postmenstrual age for retinopathy of prematurity (ROP) screening. He had nystagmus, generalised hypopigmentation of skin, hair and eyes with preaxial polydactyly. The fundus was depigmented with prominently visible choroidal vessels. The retinal vessels were dilated, tortuous at zone 1. There was presence of arcading, shunting of vessels with presence of vitreous haemorrhage in the left eye. A diagnosis of aggressive posterior retinopathy of prematurity (APROP) in association with oculocutaneous albinism (OCA) was made.Half-dose intravitreal bevacizumab was used to treat the vascular condition. After 2 weeks, there was complete regression of APROP with a completely mature retina observed at 4 months post-treatment. Herein, we describe the role of red-free light for screening ROP in infants with OCA; challenges in the management of ROP with laser photocoagulation compared with intravitreal anti-vascular endothelial growth factor therapy.


Asunto(s)
Albinismo Oculocutáneo/complicaciones , Inhibidores de la Angiogénesis/uso terapéutico , Bevacizumab/uso terapéutico , Retinopatía de la Prematuridad/tratamiento farmacológico , Humanos , Recién Nacido , Recien Nacido Prematuro , Inyecciones Intravítreas , Masculino , Retinopatía de la Prematuridad/complicaciones , Retinopatía de la Prematuridad/diagnóstico
9.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526529

RESUMEN

Mixed epithelial-stromal tumours (MESTs) of the seminal vesicle (SV) are a rare neoplasm, with biological behaviour ranging from benign to malignant. Due to their rarity, there are no established guidelines for their treatment. We report a 37-year-old man with a large MEST of the SV which was successfully resected by laparoscopic transperitoneal approach. Amidst the controversy regarding the nomenclature and grading of MESTs in literature, we reclassified the previous reports of MESTs incorporating both the WHO and Reikie et al grading.


Asunto(s)
Neoplasias de los Genitales Masculinos/cirugía , Neoplasias Complejas y Mixtas/cirugía , Vesículas Seminales/cirugía , Adulto , Cistoadenoma/diagnóstico por imagen , Cistoadenoma/patología , Cistoadenoma/cirugía , Neoplasias de los Genitales Masculinos/complicaciones , Neoplasias de los Genitales Masculinos/diagnóstico por imagen , Neoplasias de los Genitales Masculinos/patología , Humanos , Laparoscopía , Imagen por Resonancia Magnética , Masculino , Clasificación del Tumor , Neoplasias Complejas y Mixtas/complicaciones , Neoplasias Complejas y Mixtas/diagnóstico por imagen , Neoplasias Complejas y Mixtas/patología , Tumor Filoide/diagnóstico por imagen , Tumor Filoide/patología , Tumor Filoide/cirugía , Vesículas Seminales/diagnóstico por imagen , Vesículas Seminales/patología , Retención Urinaria/etiología
10.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526530

RESUMEN

A 15-year-old man presented with an acute history of facial swelling following a bout of forceful eructation after eating. Subcutaneous emphysema was noted on examination of his left face and neck. He was initially managed with intravenous antibiotics for suspected facial infection. A chest radiograph performed on day 3 of admission identified subcutaneous emphysema of the upper thorax and neck. CT with oral contrast confirmed extensive subcutaneous emphysema of neck, thorax and upper abdomen, with associated pneumomediastinum. The site of air leak was not identified. He subsequently underwent upper gastrointestinal endoscopy and this was normal. Despite the delay in diagnosis, he remained haemodynamically stable, and repeated radiography showed improvement reflecting the benign course of this condition as described in existing literature. There are no previous published reports of spontaneous pneumomediastinum following eructation; therefore, high clinical suspicion should be maintained in this presentation.


Asunto(s)
Enfisema Mediastínico/diagnóstico por imagen , Enfisema Subcutáneo/diagnóstico por imagen , Adolescente , Diagnóstico Tardío , Edema , Eructación/complicaciones , Cara , Humanos , Masculino , Enfisema Mediastínico/etiología , Radiografía Torácica , Enfisema Subcutáneo/etiología , Tomografía Computarizada por Rayos X
11.
Clin Appl Thromb Hemost ; 27: 1076029621992128, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33539188

RESUMEN

Hyperferritinemia is associated with poor outcomes in critically ill patients with sepsis, hemophagocytic lymphohistiocytosis (HLH), macrophage activation syndromes (MAS) and coronavirus disease 19 (COVID-19). Autopsies of hyperferritinemic patients that succumbed to either sepsis, HLH, MAS or COVID-19 have revealed disseminated microvascular thromboses with von Willebrand factor (VWF)-, platelets-, and/or fibrin-rich microthrombi. It is unknown whether high plasma ferritin concentration actively promotes microvascular thrombosis, or merely serves as a prognostic biomarker in these patients. Here, we show that secretion of VWF from human umbilical vein endothelial cells (HUVEC) is significantly enhanced by 100,000 ng/ml of recombinant ferritin heavy chain protein (FHC). Ferritin fraction that was isolated by size exclusion chromatography from the plasma of critically ill HLH patients promoted VWF secretion from HUVEC, compared to similar fraction from non-critically ill control plasma. Furthermore, recombinant FHC moderately suppressed the activity of VWF cleaving metalloprotease ADAMTS-13. These observations suggest that a state of marked hyperferritinemia could promote thrombosis and organ injury by inducing endothelial VWF secretion and reducing the ADAMTS-13 activity.


Asunto(s)
Proteína ADAMTS13/metabolismo , /complicaciones , Ferritinas/metabolismo , /complicaciones , Factor de von Willebrand/metabolismo , Proteína ADAMTS13/antagonistas & inhibidores , Enfermedad Crítica , Ferritinas/sangre , Células Endoteliales de la Vena Umbilical Humana , Humanos , Linfohistiocitosis Hemofagocítica/sangre , Linfohistiocitosis Hemofagocítica/complicaciones , Oxidorreductasas/sangre , Oxidorreductasas/metabolismo , Proteínas Recombinantes/sangre , Proteínas Recombinantes/metabolismo , Trombosis/sangre , Trombosis/etiología
12.
Chron Respir Dis ; 18: 1479973120986806, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33550849

RESUMEN

We examined the relative contribution of pulmonary diseases (chronic obstructive pulmonary disease, asthma and sleep apnea) to mortality risks associated with Coronavirus Disease (COVID-19) independent of other medical conditions, health risks, and sociodemographic factors. Data were derived from a large US-based case series of patients with COVID-19, captured from a quaternary academic health network covering New York City and Long Island. From March 2 to May 24, 2020, 11,512 patients who were hospitalized were tested for COVID-19, with 4,446 (38.62%) receiving a positive diagnosis for COVID-19. Among those who tested positive, 959 (21.57%) died of COVID-19-related complications at the hospital. Multivariate-adjusted Cox proportional hazards modeling showed mortality risks were strongly associated with greater age (HR = 1.05; 95% CI: 1.04-1.05), ethnic minority (Asians, Non-Hispanic blacks, and Hispanics) (HR = 1.26; 95% CI, 1.10-1.44), low household income (HR = 1.29; 95% CI: 1.11, 1.49), and male sex (HR = 0.85; 95% CI: 0.74, 0.97). Higher mortality risks were also associated with a history of COPD (HR = 1.27; 95% CI: 1.02-1.58), obesity (HR = 1.19; 95% CI: 1.04-1.37), and peripheral artery disease (HR = 1.33; 95% CI: 1.05-1.69). Findings indicate patients with COPD had the highest odds of COVID-19 mortality compared with patients with pre-existing metabolic conditions, such as obesity, diabetes and hypertension. Sociodemographic factors including increased age, male sex, low household income, ethnic minority status were also independently associated with greater mortality risks.


Asunto(s)
Asma/complicaciones , Mortalidad Hospitalaria , Enfermedad Pulmonar Obstructiva Crónica/complicaciones , Síndromes de la Apnea del Sueño/complicaciones , Salud Urbana/estadística & datos numéricos , Adulto , Anciano , Anciano de 80 o más Años , /diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Ciudad de Nueva York/epidemiología , Modelos de Riesgos Proporcionales , Factores de Riesgo , Factores Socioeconómicos
13.
Int J Mol Med ; 47(4): 1, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33537824

RESUMEN

Currently, the world is under a pandemic of severe acute respiratory syndrome coronavirus 2 (SARS­CoV­2), responsible for coronavirus disease 2019 (COVID­19). This disease is characterized by a respiratory syndrome that can progress to an acute respiratory distress syndrome. To date, limited effective therapies are available for the prevention or treatment of COVID­19; therefore, it is necessary to propose novel treatment options with immunomodulatory effects. Vitamin D serves functions in bone health and has been recently reported to exert protective effects against respiratory infections. Observational studies have demonstrated an association between vitamin D deficiency and a poor prognosis of COVID­19; this is alarming as vitamin D deficiency is a global health problem. In Latin America, the prevalence of vitamin D deficiency is unknown, and currently, this region is in the top 10 according to the number of confirmed COVID­19 cases. Supplementation with vitamin D may be a useful adjunctive treatment for the prevention of COVID­19 complications. The present review provides an overview of the current knowledge of the potential immunomodulatory effects of vitamin D in the prevention of COVID­19 and sets out vitamin D recommendations for the Latin American population.


Asunto(s)
/complicaciones , Factores Inmunológicos/uso terapéutico , Infecciones del Sistema Respiratorio/virología , Deficiencia de Vitamina D/complicaciones , Vitamina D/uso terapéutico , Huesos , Suplementos Dietéticos , Humanos , América Latina , Prevalencia , Sistema Renina-Angiotensina
14.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526536

RESUMEN

A 49-year-old man with a 37.5 pack-year smoking history presented with a suspected neoplasm of the right lung following the discovery of a metabolically active mass on positron emission tomography-CT imaging. The patient, who demonstrated poor oral hygiene, had a history of irregular problem-oriented dental visitation. Having excluded malignancy through histologic investigations, Aggregatibacter actinomycetemcomitans-a well-established periodontal pathogen-was subsequently cultured from his pulmonary aspirate. The patient was therefore managed with systemic antimicrobials and adjunctive dental extractions to eliminate the likely source of infection, whereafter the mass resolved without complication. This case corroborates previous reports of extraoral isolation of A. actinomycetemcomitans, which may mimic cancer clinically and radiographically. While a definitive causative link between untreated periodontitis and systemic infection remains to be elucidated, such cases present a compelling argument in favour of promoting oral health to prevent systemic disease.


Asunto(s)
Aggregatibacter actinomycetemcomitans/aislamiento & purificación , Diagnóstico Diferencial , Absceso Pulmonar/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico , Infecciones por Pasteurellaceae/diagnóstico , Periodontitis/diagnóstico , Nódulo Pulmonar Solitario/diagnóstico por imagen , Biopsia con Aguja Fina , Secciones por Congelación , Humanos , Absceso Pulmonar/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Infecciones por Pasteurellaceae/tratamiento farmacológico , Periodontitis/complicaciones , Periodontitis/terapia , Tomografía Computarizada por Tomografía de Emisión de Positrones , Radiografía Panorámica , Radiografía Torácica , Cirugía Torácica Asistida por Video , Tomografía Computarizada por Rayos X
15.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33526539

RESUMEN

Haemodynamic flow-related stress at the vessel curvatures is an important risk factor for intracranial aneurysmal growth and rupture. The rete middle cerebral artery (MCA) is a rare entity causing hyperdynamic blood flow into the ipsilateral anterior cerebral artery (ACA), especially when the contralateral A1-segment is non-dominant. Ruling out the clinicoradiological mimics like vasculitis, moyamoya and chronic occlusive disease with vessel wall imaging and detailed investigations helps manage the clinical entity effectively. We present a successfully managed case of ruptured ACA aneurysm at the acute curvature of the A1-A2 junction associated with ipsilateral rete MCA. Pre-emptive diagnosis of the rete MCA can aid preventive strategies to manage rupture and regrowth of the aneurysm at the points of flow-related stress.


Asunto(s)
Aneurisma Roto/diagnóstico por imagen , Arteria Cerebral Anterior/diagnóstico por imagen , Malformaciones Vasculares del Sistema Nervioso Central/diagnóstico por imagen , Aneurisma Intracraneal/diagnóstico por imagen , Arteria Cerebral Media/anomalías , Hemorragia Subaracnoidea/diagnóstico por imagen , Adulto , Aneurisma Roto/etiología , Aneurisma Roto/terapia , Angiografía de Substracción Digital , Malformaciones Vasculares del Sistema Nervioso Central/complicaciones , Angiografía por Tomografía Computarizada , Procedimientos Endovasculares , Humanos , Aneurisma Intracraneal/etiología , Aneurisma Intracraneal/terapia , Imagen por Resonancia Magnética , Masculino , Arteria Cerebral Media/diagnóstico por imagen , Hemorragia Subaracnoidea/terapia , Tomografía Computarizada por Rayos X
16.
BMJ Case Rep ; 14(2)2021 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-33547096

RESUMEN

A 34-year-old woman presented with an unrelenting headache which had been ongoing since discharge from hospital 4 days before. She initially presented 2 weeks earlier with a 7 days history of severe headache, for which she had a CT scan, lumbar puncture and treatment for possible viral meningitis. The headache got worse 4 days after the lumbar puncture. Despite analgesics and bed rest, the headache persisted. A subsequent magnetic imaging scan demonstrated bilateral subdural effusions. She was given supportive treatment, which included advice concerning strict bed rest and analgesia. The headache took several months to abate. A third of patients suffer from post lumbar puncture headaches and this should be explained during informed consenting and post procedure. Not all post lumbar puncture headaches are simple headaches. A post lumbar puncture headache continuing for more than 7-14 days after the procedure requires further investigation to exclude life-threatening intracranial complications.


Asunto(s)
Hipotensión Intracraneal/complicaciones , Cefalea Pospunción de la Duramadre/etiología , Punción Espinal/efectos adversos , Efusión Subdural/diagnóstico por imagen , Efusión Subdural/etiología , Adulto , Analgésicos/uso terapéutico , Reposo en Cama , Diagnóstico Tardío , Femenino , Humanos , Cefalea Pospunción de la Duramadre/terapia
17.
BMJ Case Rep ; 14(2)2021 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-33547102

RESUMEN

A 32-year-old doctor, who has a medical history of primary Raynaud's disease and previous scotomas, presented to eye clinic with sudden onset blurring of vision (infero-nasally) with no other associated symptoms. The patient had good visual acuity bilaterally (6/6) and no anterior chamber activity or conjunctival hyperaemia. Findings consistent with a nerve fibre layer infarct were noted in the right eye, with unremarkable examination of the left eye. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) images were obtained, which showed an area of capillary shut down in keeping with a nerve fibre layer lesion. Previous literature pertaining to similar symptoms is sparse with symptoms such as migraines, epilepsy and visual loss being stated. This case provides further evidence of Raynaud's associated retinal artery spasm, with complete resolution at 4 weeks. We also demonstrate the accessibility of OCT and more importantly OCTA for investigation of sudden onset visual deficit.


Asunto(s)
Enfermedad de Raynaud/complicaciones , Arteria Retiniana , Enfermedades de la Retina/etiología , Espasmo/etiología , Enfermedades Vasculares/etiología , Adulto , Diagnóstico Diferencial , Femenino , Humanos
18.
BMJ Case Rep ; 14(2)2021 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-33547104

RESUMEN

We observed a rare case of two different digestive paraneoplastic syndromes that improved with the treatment of the neoplasms. The first syndrome was chronic intestinal pseudo-obstruction (CIPO), which is a subtype of paraneoplastic syndromes called a paraneoplastic neurological syndrome (PNS). The second was Stauffer's syndrome, which is a unique paraneoplastic syndrome characterised by non-metastatic intrahepatic cholestasis associated with neoplasms. Here, we report the case of a 55-year-old man who presented with two concurrent paraneoplastic syndromes in the digestive system. The intestinal pseudo-obstruction and elevated biliary enzyme levels improved as the lung cancer responded to chemotherapy. In this case, CIPO as a PNS led to the detection of lung cancer. To our knowledge, this is the first report of Stauffer's syndrome caused by lung adenocarcinoma.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Colestasis Intrahepática/etiología , Seudoobstrucción Intestinal/etiología , Neoplasias Pulmonares/tratamiento farmacológico , Síndromes Paraneoplásicos/complicaciones , Biomarcadores/sangre , Colestasis Intrahepática/diagnóstico , Diagnóstico Diferencial , Humanos , Seudoobstrucción Intestinal/diagnóstico , Neoplasias Pulmonares/diagnóstico , Masculino , Persona de Mediana Edad , Síndromes Paraneoplásicos/diagnóstico , Síndrome
19.
BMJ Case Rep ; 14(2)2021 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-33547108

RESUMEN

We describe a rare case of a 4-month-old girl presenting with a several month history of reduced movement to the left arm accompanied by a maculopapular rash to the limbs. X-ray findings included inflammatory periosteal changes to the radius and ulna. Treponema pallidum IgM was detected in both baby and mother, and a diagnosis of congenital syphilis was made. This case is an interesting clinical picture with a variety of important differential diagnoses, including non-accidental injury, malignancy, autoimmune disease and other congenital infections. With an increasing rate of congenital syphilis infection in the developed world, it is vital that clinicians are able to recognise symptoms to ensure prompt diagnosis and treatment. In this respect, we can attempt to avoid the chronic and potentially life-threatening complications of untreated infection.


Asunto(s)
Debilidad Muscular/diagnóstico , Sífilis Congénita/diagnóstico , Terapia Combinada , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Debilidad Muscular/etiología , Debilidad Muscular/terapia , Sífilis Congénita/complicaciones , Sífilis Congénita/terapia
20.
BMJ Case Rep ; 14(2)2021 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-33547114

RESUMEN

Tumour lysis syndrome (TLS) is a constellation of metabolic derangements caused by lysis of tumour cells. It is an oncological emergency that is considered a rare occurrence in multiple myeloma (MM) and usually occurs after patients have been treated with chemotherapy. We describe a very rare case of TLS occurring before the official diagnosis or treatment of MM. We report infrequent karyotype abnormalities, including loss of 17p13.1 (TP53 mutation), t(4;14) (FGFR3/IGH fusion) and monosomy 13, that have not been explicitly described in association with spontaneous tumour lysis syndrome (STLS) in MM. This case adds to the sparse literature available on STLS in MM, which is a life-threatening situation requiring urgent medical intervention.


Asunto(s)
Mieloma Múltiple/complicaciones , Síndrome de Lisis Tumoral/genética , Diagnóstico Diferencial , Quimioterapia Combinada , Resultado Fatal , Humanos , Masculino , Persona de Mediana Edad , Monosomía , Mieloma Múltiple/diagnóstico , Mieloma Múltiple/terapia , Diálisis Renal , Síndrome de Lisis Tumoral/diagnóstico , Síndrome de Lisis Tumoral/terapia
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