Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pheochromocytoma is a tumor secreting catecholamines and is most often a sporadic and benign adrenal tumor. But in some cases the tumor is extra-adrenal (10%), malignant (10%) or familial (10%) and in this last case frequently bilateral. The clinical expression of pheochromocytoma is typically hypertension, with paroxysms including headache, excessive sweating, palpitations, but various clinical presentations can be observed. The biological diagnosis is represented by the measurement of urinary catecholamines. The most sensitive and specific test is the measurement of urinary metanephrines or of plasma methoxyamines. The tumor localization is generally easy using CT scan and (or) NMR imaging, associated with MIBG scintigraphy. The treatment is surgical after medical management.
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PMID:[Pheochromocytoma]. 1176 69

A 29 year old woman was referred from Jos University Teaching Hospital (J. U.TH.) with a provisional diagnosis of phaeochromocytoma. She had presented with recurrent headaches, palpitations, excessive sweating, dizziness, syncope and hypertension. She was treated with phenoxybenzamine and propranolol for six weeks before the drugs were discontinued. This followed conflicting results of investigations done. The return of persistent and severe symptoms led to recommencement of the drugs and surgical intervention after four weeks. A general anaesthetic technique was used. The surgery was complicated by intraoperative hypertension and hypotension. Phentolamine was used to manage intraoperative hypertension. Postoperative complications included shivering, fatigue and paralytic ileus. The report emphasizes the need to take clinical findings into consideration in interpreting results of investigations. It also illustrates the anaesthetic experience for excision of a phaeochromocytoma.
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PMID:Problems with the management of a case of phaeochromocytoma: case report. 1192 28

The five different types of the rare hereditary sensory and autonomic neuropathies (HSAN) are classified by their mode of inheritance, pathology, natural history, biochemical, neurophysiologic and autonomic abnormalities. Clinically, the different types of HSANs can be identified by a detailed history and examination and 'bedside' tests of sympathetic or parasympathetic function such as active standing, metronomic breathing or the Valsalva maneuver, sensory and motor nerve conduction studies, quantitative sensory testing of thermal and vibratory perception, and the analysis of sudomotor function by recordings of the sympathetic skin response (SSR) or the sweat output during quantitative sudomotor axon reflex testing (QSART). The slowly progressive, symmetrical HSAN type I manifests between the second and fourth decade with ulcers or mutilations of the lower extremities, low normal sensory and motor nerve conduction velocities, but abnormal warm, cold and heat pain perception and distal anhidrosis. In HSAN type II, symptoms occur already in infancy, trophic alterations affect fingers and toes. There are acral anhidrosis and various autonomic dysfunctions such as tonic pupils, eating and swallowing difficulties, constipation, episodic fever, profound hypotonia and episodes of apnea. Sensory perception is severely impaired and accounts for elevated vibratory but also thermal perception thresholds. Sensory nerve conduction is highly abnormal while motor nerve conduction studies are almost normal. Type III, the autosomal recessive familial dysautonomia (FD), is the most common of the HSANs. FD is characterized by pronounced autonomic, primarily sympathetic dysregulation with severe orthostatic hypotension, repeated episodes of autonomic crises with excessive arterial hypertension, profuse sweating, skin blotching, puffy hands and behavioral abnormalities. FD manifests only in children of Ashkenazi Jewish ancestry. Cardinal findings are diminished deep tendon reflexes, absence of overflow tears, absence of fungi-form papillae of the tongue and of axon flare response following intradermal histamine injection. Thermal and vibratory testing show pronounced impairment of temperature and pain but also of vibratory perception. Children with HSAN IV, 'congenital insensitivity to pain with anhidrosis' experience repeated episodes of high fevers during high environmental temperature due to anhidrosis. The anhidrosis of the hyperkeratotic skin accounts for absence of the SSR or lack of sweat output during QSART. The patients' insensitivity to superficial as well as deep, visceral pain can be demonstrated e. g. by quantitative heat pain testing. Patients develop severe mutilations e. g. of the tip of their tongue, they might have severe burn injuries and multiple, unnoticed fractures with neuropathic joints. Children with the very rare HSAN type V respond normally to tactile, vibratory or thermal stimuli, but have a selective loss of pain perception with otherwise normal neurological examination. Painful stimuli reveal no signs of discomfort.
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PMID:Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. 1210 61

Episodic spontaneous hypothermia is an infrequent disorder, with unknown pathogenic mechanisms. A systemic cause or underlying brain lesion has not been found for the disease. We report four new patients, 3-9 years old, with episodic hypothermia lower than 35 degrees C, marked facial pallor, and absent shivering. The episodes could last a few hours or four days, and recurred once a week or every 2-3 months. Two patients also demonstrated bradycardia, mild hypertension, and somnolence during the events; in one of them, profuse sweating was also a feature, and all four presented with either headache, a periodic childhood syndrome, or both (recurrent abdominal pain, cyclic vomiting, or vertigo). Three patients reported a family history of migraine. Neurologic examination, endocrine function, and imaging studies were normal. Migraine prophylactic therapy was of moderate efficacy. Spontaneous resolution was observed in one patient. The clinical characteristics of the syndrome allow for its inclusion as a childhood periodic syndrome related to migraine.
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PMID:Episodic spontaneous hypothermia: a periodic childhood syndrome. 1284 86

We describe 6 unrelated patients affected by infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) with prolonged survival upon mechanical ventilation (4.5-11 years), which has not been reported before. Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients. Disease onset was in the first 2 months in the described patients, starting with generalised hypotonia, failure to thrive, and early breathing difficulties. Diaphragmatic palsy was diagnosed and permanent ventilation was initiated 2-8 months after onset. Within months a more distal muscular atrophy became evident associated with joint contractures (talipes), hand drops, and fatty finger pads. Motor development remained minimal, loss of function was observed within the first year after which no further progression was recorded. Voiding dysfunction with reflux nephropathy was observed in 3 patients and has not been reported before. Further evidence of autonomic nerve dysfunction resulting in cardiac arrhythmia, hypertension, and excessive sweating was given in 2 patients. Investigative results were largely compatible with those obtained in classic SMA. However, neurogenic atrophy muscle was more pronounced in distal muscles, if examined, and there was evidence of peripheral nerve involvement at least in some patients.
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PMID:Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 1524

Charcot spinal arthropathy has been described as a late complication of spinal cord injury. In patients with these injuries in whom the spine below the level of injury is insensate, joint trauma can progress until spinal instability ensues. The authors describe the case of a 50-year-old man with complete C-8 tetraplegia who experienced a 4-month history of episodic severe headaches, profuse sweating over his face and arms, and episodic severe hypertension in addition to a "grinding" sensation in the lower back. Charcot arthropathy at the T11-12 levels with pathological mobility was demonstrated on neuroimaging. Intraoperatively, a complete spinal cord transection was identified. Anterior and posterior thoracolumbar fusion across the mobile segment resulted in complete amelioration of signs and symptoms of autonomic dysreflexia. This entity, a common condition in the setting of spinal cord injury, has many triggers. Definitive treatment is targeted at the removal of the underlying cause. As demonstrated here, Charcot spinal arthropathy can act as a powerful trigger for induction of autonomic dysreflexia. Treatment of the associated spinal instability resulted in eradication of all signs and symptoms of the dysreflexia.
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PMID:Charcot arthropathy in relation to autonomic dysreflexia in spinal cord injury: case report and review of the literature. 1587 89

Antipsychotics have been found to induce recurrent psychotic episodes lasting minutes to hours, mostly accompanied by oculogyric crisis (OGC). To characterize this side effect, antipsychotic-induced and postencephalitic OGCs that were reported in the literature were compared to find out common characteristics of OGCs and their associated symptoms. Both postencephalitic and antipsychotic-induced OGCs were found to occur late in the day and at regular intervals, and were associated with autonomic symptoms such as profuse sweating, facial flushing, transitory hypertension and difficulty in micturition. They were often associated also with transient psychiatric episodes: visual hallucinations and illusions, auditory hallucinations, delusions, catatonic phenomena, obsessive thoughts and panic attacks. These (OGC) characteristics will be useful in recognizing antipsychotic-induced psychiatric episodes. The associated psychiatric episodes were noted to recur occasionally also without OGC in a few postencephalic cases, and during gradual dose reduction or after a switch to a novel or low-potency antipsychotic in drug-induced cases. These findings suggest that episodes with the OGC characteristics but without OGC per se, may be less severe reactions to antipsychotic medication than those with OGC, and may represent manifestations of subclinical OGC.
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PMID:Psychiatric symptoms associated with oculogyric crisis: a review of literature for the characterization of antipsychotic-induced episodes. 1668 78

Ectopic production of corticotropin-releasing hormone (CRH) by a pheochromocytoma is an infrequent cause of Cushing's syndrome. We report the case of a 43-year-old man with Cushing's syndrome due to a CRH-producing adrenal pheochromocytoma. The patient had clinical and biochemical evidence of hypercortisolism in conjunction with high ACTH levels and non-suppressible serum cortisol levels on low-dose and high-dose dexamethasone suppression testing. In addition to these clinical features of one month's duration, the patient developed symptoms of pheochromocytoma including headache, hypertension that was resistant to conventional therapy and excessive sweating. Biochemical testing confirmed elevated 24-hour urinary catecholamines and metabolites. Abdominal CT revealed a 4.5 x 4 x 3.5 cm mass in the left adrenal gland. He underwent elective left adrenalectomy. Light microscopic and immunochemical studies revealed a pheochromocytoma that contained immunoreactive CRH and was negative for ACTH. Plasma ACTH and dexamethasone supression tests normalized after surgery. This is an unusual case of a CRH-secreting pheochromocytoma. This was complicated by renal infarction, illustrating further the complexity of Cushing's syndrome in a patient with pheochromocytoma caused by CRH hypersecretion.
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PMID:Cushing's syndrome due to ectopic CRH secretion by adrenal pheochromocytoma accompanied by renal infarction. 1703 27

The typical symptoms and signs of neuroleptic malignant syndrome (NMS) consist of fever muscle rigidity (stiffness, myoclonus, rod-like), alterations of consciousness (confusion, agitation, aggression, or catatonia), autonomic nervous system disturbances (i.e., hypertension, tachycardia, tachypnea, profuse sweating, and urine incontinence), abnormal blood tests such as low serum electrolytes, elevated serum creatinine phosphokinase (CPK) level, and leukocytosis. Muscle rigidity is often associated with myonecrosis, myoglobinuria, and elevated serum CPK. The mortality among NMS cases is in the 10 to 70% range depending on the severity of the symptoms and time of therapeutic approach. Mandatory therapy should include removal of causative agents, correction of body fluid and electrolytes, administration of benzodiazepine, clonazepam and bromocriptine (dopamine agonist), proved life-saving medications. The authors reported herein six cases with unusual clinical features of NMS. Four of them had been on antipsychotic for a year before becoming anorexic, dehydrated, agitated, and violent with paranoid delusion. One instance with underlying delirium tremens developed NMS after receiving haloperidol (30 mg IV) in addition to diazepam (200 mg IV) within 24 hours. Another patient was found to suffer from severe NMS after receiving bupropion (Dopamine inhibitor antidepressant) 300 mg/day. All patients displayed cardinal signs and symptoms of NMS in addition to dehydration and pallor. They were treated in the psychiatric ward and recovered rapidly from NMS after receiving clonazepam and bromocriptine and removal of the offending agents.
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PMID:Neuroleptic malignant syndrome: a review and report of six cases. 1721 72

Autonomic dysreflexia is a potentially life-threatening hypertensive medical emergency that occurs most often in spinal cord-injured individuals with spinal lesions at or above the mid-thoracic spinal cord level. It is a condition that remains poorly recognised outside of spinal cord injury centres, which may result in adverse outcomes including mortality from potentially delayed diagnosis and treatment. Acute autonomic dysreflexia is characterised by severe paroxysmal hypertension associated with throbbing headaches, profuse sweating, nasal stuffiness, flushing of the skin above the level of the lesion, bradycardia, apprehension and anxiety, which is sometimes accompanied by cognitive impairment. The key to effective management is prevention of the condition, by recognition and avoidance of factors that initiate the condition. When it occurs, immediate recognition and reversal of trigger factors along with prompt administration of pharmacological treatment is of paramount importance in order to prevent complications, which include intracranial and retinal haemorrhage, convulsions, cardiac irregularities and death. Promising data from recent animal studies may hold the key to future treatment options.
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PMID:Recognition and effective management of autonomic dysreflexia in spinal cord injuries. 1747 40


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