Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.1.1.6 (CAD)
 4,420 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 41 year old woman presented with dyspnoea at rest and swollen legs in the emergency room of our centre. She reported a history of slowly progressing dyspnoea and oedema in the legs. Physical examination showed signs of biventricular congestive heart failure and dysmorphia of the face. Routine laboratory examination revealed elevated CK levels without significant elevations of the CK-MB isoform. ECG showed complete left bundle branch block and first degree atrioventricular block. Echocardiography and angiography showed markedly reduced left ventricular systolic function, the ejection fraction was 25%. Coronary angiography excluded CAD and there was no evidence for congenital or valvular heart disease. The patient also reported a history of a serious complication during emergency general anaesthesia and cataracts of both eyes. Because of the clinical and chemical findings, the history of cataracts and complications during general anaesthesia, a systemic congenital disease of the muscular tissue was suspected. Molecular studies revealed a trinucleotide amplification at the myotonic dystrophy locus 19q 13.3, so the diagnosis myotonic dystrophy Curschmann-Steinert was established. The sixteen year old son of the patient suffered from an at this time unknown disease with retardation, muscular weakness and myotonia of the face. The diagnosis myotonic dystrophy was evident because of the clinical signs and the family history.
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PMID:[Late diagnosis of Curschmann-Steinert myotonic dystrophy in a female patient with dilated cardiomyopathy and in her son]. 1095 85

A predisposing weakness of the vessel wall has been assumed in patients with spontaneous cervical artery dissections (sCAD). Skin biopsies from many patients with sCAD show mild connective tissue alterations. However, their assessment depends on an invasive and highly specialized technique. Clinical signs of connective tissue disease are absent in the majority of CAD patients. In this review we document that only very few CAD patients are affected by known inherited connective tissue disorders like Ehlers-Danlos syndrome, Marfan syndrome or Osteogenesis Imperfecta. In a second part of this review we discuss the possible role of unrecognized or unknown forms of connective tissue disorders in the etiology of CAD.
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PMID:The association of connective tissue disorders with cervical artery dissections. 1927 29

Individuals with multiple sclerosis (MS) may experience symptoms that impact comorbid conditions and quality of life (QOL). There is some evidence that symptom severity may vary in certain common health conditions in this population. We aimed to examine symptom severity in light of comorbid conditions commonly seen in individuals with MS (N = 339). Using a cross-sectional Internet survey, we found there was a significant increase in symptom severity of common symptoms of fatigue, imbalance, and weakness, specifically with presence or absence of certain comorbid conditions (depression, arthritis, migraine headaches, coronary artery disease [CAD]). These findings endorse the presence of more severe symptoms with certain comorbid conditions compared with individuals with MS who do not report having comorbid conditions. The findings support the importance of symptom management in individuals with MS who also have comorbid conditions.
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PMID:The Presence of Symptoms With Comorbid Conditions in Individuals With Multiple Sclerosis (MS). 2612 88

These interventions usually aimed at the correction of the skeletal discrepancy by mandibular retrognatism with an advancement of the distal portion of the mandible after mandibular osteotomy. The position of the condyle is determined during the osteosynthesis with miniplates. Condyles are set back in relation with the supine position of the patient and the weakness of his (her) curarized muscle. All studies show that surgery of mandibular advancement causes a lateral, torque and backward movement of the condyles, all harmful to the condyles. Factors that predispose to condylar resorption are "the patient": a woman, young (between 15 and 40), high mandibular angle, with a history of temporo-mandibular disorders and surgical overload applied to the condyles. What are the possible solutions to avoid failures? Patient preparation before surgery and surgery simulation with an articulator, condylar position control during surgery, working with surgeons to achieve a condylar portion stabilization system (with the CAD), quickly set up a mobilization of the mandible by physiotherapy.
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PMID:[Maxillo-facial surgery in skeletal Class II: repercussions on the temporo-mandibular joints]. 2708 25

A 57-year-old male former smoker presented to the Emergency Department (ED) with blurry vision, headache, and generalized weakness. He was hypoxic on room air and ECG showed sinus tachycardia. A CT pulmonary angiogram was ordered in the ED and revealed no pulmonary embolism but incidentally noted a likely significant stenosis in the proximal LAD. Subsequent cardiac catheterization revealed a 90% stenotic lesion with percutaneous coronary intervention leading to symptom resolution. Unlike coronary CTA, CTPA is performed with non-ECG gated helical scanning and generates motion artifacts associated with myocardial contraction. However, the timing of vascular contrast opacification during CTPA often allows for at least partial evaluation of the coronary arteries, especially ostial and proximal segments. Physicians ordering and evaluating noncardiac-focused CT chest studies, particularly in the ED, should remain cognizant of the radiographic appearance of underlying CAD, particularly life-threatening incidental coronary pathologies to allow for timely management and intervention.
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PMID:Incidental LAD stenosis identified on non-gated chest CTA. 2968 60