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1.
Forensic Sci Med Pathol ; 19(3): 440-451, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36881378

RESUMEN

Sexual violence can have an overwhelming impact on the victim's physical and mental health; the consequences include unintended pregnancy and sexually transmitted infections (STIs). Therefore, the examiners must assess victims for possible pregnancy and sexually transmitted infections as a part of the sexual assault examination. This article aims to orient the medico-legal examiners towards their role in preventing unintended pregnancy and sexually transmitted infections among victims of sexual assault. Prompt detection of pregnancy or STIs is critical, as any delay would adversely affect the successful administration of emergency contraception and post-exposure prophylaxis (PEP) against human immunodeficiency virus (HIV) and other sexually transmitted infections.


Asunto(s)
Víctimas de Crimen , Delitos Sexuales , Enfermedades de Transmisión Sexual , Embarazo , Humanos , Femenino , Enfermedades de Transmisión Sexual/diagnóstico , Enfermedades de Transmisión Sexual/prevención & control , Medicina Legal , Examen Físico , Profilaxis Posexposición
2.
BMJ Case Rep ; 15(3)2022 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-35264382

RESUMEN

Pompe disease is an autosomal-recessive inherited disorder of glycogen metabolism due to lysosomal acid alpha-glucosidase deficiency. The infantile-onset form is rapidly fatal if left untreated and presents with respiratory symptoms, a typical encounter during infancy. We discuss two infants presenting with respiratory symptoms since early infancy and found to have cardiomegaly, hypotonia, elevated muscle enzymes, leading to the diagnosis of Pompe disease with genetic confirmation. However, both infants expired before the enzyme replacement therapy due to complications of irreversible muscle damage despite supportive medical care. Presentation with respiratory symptoms common during childhood, absence of alarming symptoms such as hypoglycaemia, ketoacidosis or encephalopathy, and relative rarity of Pompe disease can contribute to lapses in the early diagnosis as observed in the index patients. Thus, these cases emphasise the importance of vigilant assessment of common paediatric presentations, which may be presenting symptoms of underlying sinister pathologies.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo II , Cardiomegalia , Niño , Terapia de Reemplazo Enzimático , Enfermedad del Almacenamiento de Glucógeno Tipo II/complicaciones , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo II/tratamiento farmacológico , Humanos , Lactante , Hipotonía Muscular/complicaciones , alfa-Glucosidasas/genética , alfa-Glucosidasas/uso terapéutico
3.
BMJ Case Rep ; 14(9)2021 Sep 29.
Artículo en Inglés | MEDLINE | ID: mdl-34588205

RESUMEN

Neonatal chylothorax is a rare presentation leading to significant respiratory distress, thus requiring timely diagnosis. A preterm neonate was resuscitated and ventilated, following which she clinically improved but subsequently developed respiratory distress with a right-sided pleural effusion. Interestingly, thoracentesis fluid appeared 'milky' with elevated triglycerides and lymphocytes, suggesting chylothorax. As fluid triglyceride level was lower than the established diagnostic criterion for chylothorax (1.24 mmol/L), a high fluid-to-serum triglyceride ratio was used as a surrogate diagnostic marker, later confirmed by lipoprotein electrophoresis. As observed in the index patient, a critically ill neonate would have a lower-than-average fat intake leading to less chylomicron production, thus lower triglyceride levels in chyle than expected, which may still fail to meet the amended cut-off limit. This case highlights the challenges in diagnosing neonatal chylothorax due to the lack of age-specific triglyceride levels in chyle and low oral fat intake in critically ill patients.


Asunto(s)
Quilo , Quilotórax , Derrame Pleural , Quilotórax/diagnóstico , Quilotórax/etiología , Dieta con Restricción de Grasas , Exudados y Transudados , Femenino , Humanos , Recién Nacido , Derrame Pleural/diagnóstico , Derrame Pleural/etiología
4.
BMJ Case Rep ; 14(5)2021 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-33962921

RESUMEN

Small cell lung carcinoma, when associated with co-occurrence of complications such as paraneoplastic syndrome and superior vena cava syndrome, poses a greater management challenge to the clinical team. We report a 56-year-old man who was eventually diagnosed with stage III small cell lung carcinoma, presenting with respiratory distress, facial and upper body oedema, proximal muscle weakness, hypokalaemia, new-onset hypertension and hyperglycaemia. His medical management was complicated by associated superior vena cava syndrome and Cushing's syndrome leading to refractory hypokalemia, immunosuppression and depression. Although the patient improved clinically and biochemically with the chemotherapy and other treatments, the development of neutropenic pneumonia led to his demise. This case highlights the importance of a multidisciplinary approach to achieve better patient care and the need for good clinical vigilance to identify possible humoral manifestations of aggressive malignancies such as small cell carcinoma of the lung to assist their early detection.


Asunto(s)
Hipopotasemia , Neoplasias Pulmonares , Síndrome de Dificultad Respiratoria , Síndrome de la Vena Cava Superior , Edema , Humanos , Hipopotasemia/diagnóstico , Hipopotasemia/etiología , Neoplasias Pulmonares/complicaciones , Masculino , Persona de Mediana Edad
5.
Int J Inj Contr Saf Promot ; 22(2): 158-64, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-24341667

RESUMEN

Reckless driving behaviour associated with alcohol has been well known. In Sri Lanka, research on blood alcohol concentration (BAC) in road fatalities is scares. Thus, we studied the BAC in vulnerable road users (VRUs) encountered in medico-legal autopsies. A retrospective descriptive study based on case records of VRU fatalities from 2005 to 2012 referred for a tertiary care unit for post-mortem examination was conducted. A pro-forma was developed to extract data from the post-mortem blood alcohol reports. Data were analysed using percentages and p-values. There were 119 cases from the 328 autopsies to investigate blood alcohol tests. A total of 51% (n = 61) out of 119 had BAC above 80 mg/100 ml and mean level was 103 mg/100 ml. 2/3 of pedestrians had a BAC above 80 mg/100 ml with a mean level of 139 mg/dl. The highest mean blood alcohol (158 mg/dl) was reported from three-wheeler users. Majority of cases with more than 80 mg/100 ml BAC was reported in the age group of 40-60 years, while 40% of the elderly too had a BAC above 80 mg/100 ml. The comparison between pedestrians having above 80 mg/100 ml of BAC with that of other VRUs (active road users) showed a significant statistical difference (p = 0.017). The study results suggest that alcohol influence among pedestrians represent a significant risk factor for fatal road traffic accidents.


Asunto(s)
Accidentes de Tránsito/mortalidad , Ciclismo , Nivel de Alcohol en Sangre , Caminata , Adulto , Humanos , Masculino , Persona de Mediana Edad , Motocicletas , Estudios Retrospectivos , Sri Lanka/epidemiología , Centros de Atención Terciaria , Adulto Joven
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