Zobrazeno 1 - 10
of 21 204
pro vyhledávání: '"030105 genetics & heredity"'
Publikováno v:
Mol Genet Metab
Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy. Early detection of these heterogenous genetic disorders can inform genetic cou
Publikováno v:
Molecular Genetics and Metabolism. 137:445-448
Cerebral palsy is the most common physical disability of childhood describing a heterogeneous group of neurodevelopmental disorders that cause activity limitation, but often are accompanied by disturbances of sensation, perception, cognition, communi
Publikováno v:
BMJ case reports. 14(8)
Stüve-Wiedemann syndrome (SWS) is a rare, autosomal recessive disorder, causing dysautonomia and multisystem failure. Symptoms include skeletal malformations, restricted joint mobility and desensitisation to pain. Patients with SWS presenting with i
Publikováno v:
BMJ Case Rep
A case report of a patient with bilateral frontoethmoid mucoceles with no obvious predisposing factors and each side presenting three years apart, with no ongoing nasal or paranasal signs of disease in the interim.Bilateral paranasal sinus mucoceles
Publikováno v:
BMJ Case Rep
A 57-year-old man with a history of hypertension was admitted to the emergency department with septic shock and was therefore intubated and transferred to our intensive care unit (ICU). The patient had a supracondylar knee fracture 4 months ago, and
Publikováno v:
BMJ Case Rep
The most common cause of spontaneous intracranial hypotension headache is a cerebrospinal fluid (CSF) leakage, but the underlying mechanisms remain unknown. Intracranial hypotension is characterised by diffuse pachymeningeal enhancement on cranial MR
Publikováno v:
BMJ Case Rep
A 55-year-old man presented with occasional shortness of breath and palpitations for the last 6 months. Holter monitoring revealed intermittent complete heart block and junctional escape rhythm. Transthoracic echocardiography was unremarkable. Cardia
Publikováno v:
BMJ Case Rep
Coronary spasm in carcinoid heart disease has an incidence of 10%, but is rare in patients with neuroendocrine tumours without carcinoid heart disease. We present a rare case of right coronary artery spasm and ST elevations secondary to a neuroendocr
Publikováno v:
BMJ Case Rep
Paediatric cardiac tumours are rare, often benign and carry associations with genetic conditions. Cardiac fibromas are mainly composed of fibroblast and connective tissue . They can lead to symptoms due to obstruction of blood flow or arrythmias. In
Publikováno v:
BMJ Case Rep
A 61-year-old man was admitted to the emergency department with a 24-hour history of anuria and abdominal discomfort. He reported a urinary tract infection in the previous month and had started a product purchased from herbalists in Brazil a few days