Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
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A case of the squamous cell carcinoma of the frontal sinus complicated with osteomyelitis of the frontal bone was reported. A 47-year-old male was admitted to Asahikawa Medical College Hospital because of a bulging of forehead and remittent fever of a six-month history and general convulsive seizures on the day before admission. On physical examination, a bulging of forehead with redness, tenderness and fluctuation was noted. Sense of smell diminished bilaterally. Oto-laryngological examination disclosed paranasal sinusitis. Skull X-P and CT scan suggested osteomyelitis of the frontal bone secondary to frontal sinusitis. However, a frontal sinus tumor with osteomyelitis was also possible. Operation was performed and a granulomatous mass attached to the dura with thick epidural abscess was noted. The mass and affected bone edge were removed. Pathological examination of the specimens disclosed findings of squamous cell carcinoma and osteomyelitis. Recurrence of the tumor rapidly occurred and reoperation was performed a month after the first operation. Postoperative irradiation and chemotherapy with pepleomycin were done but failed to control the growth and recurrence occurred immediately. The tumor penetrated the skin of the forehead and the patient died of cachexy 7 months after the first surgery. Osteomyelitis usually occurred in the metaphysis of long tubular bone and rarely in short bone or flat bone such as a skull. This is attributed to the difference of distribution of the bone marrow vessels. Embolization and subsequent growth of bacteria in the blood flow is less liable to occur in short bone and flat bone.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Squamous cell carcinoma of the frontal sinus caused osteomyelitis of the frontal bone]. 402 54

The number of brain abscesses has been reduced since the preantibiotic era. This was accomplished by judicious use of antibiotics, by the advent of computed tomography, and by improvements in patient care and surgical techniques. Analysis from 122 patients with brain abscess demonstrated this trend of progress. Our series had a 3.2-to-1 male predominance. The underlying conditions included otolaryngologic infections (26 cases), cyanotic heart diseases (27 cases), implantation abscess (25 cases), lung infections (5 cases), meningitis (4 cases), osteomyelitis (2 cases), decreased immunity from chronic systemic diseases (12 cases), and unknown causes (21 cases). Otolaryngologic subgroups can be detailed as chronic otitis media with cholesteatoma (15 cases), chronic otitis media with mastoiditis (4 cases), sinusitis (2 cases), esophageal stenosis (3 cases), cheek cellulitis (1 case), and nasopharyngeal carcinoma (1 case). The initial symptoms and signs were headache (46 cases), fever (36 cases), altered consciousness (30 cases), neurologic deficits (33 cases), vomiting (11 cases), and seizure (17 cases). Of the brain abscesses treated, multiple brain abscess represented 16.4% of all cases. The overall percentage of patients with full recovery was 52.5%, whereas 84.8% of otolaryngologic subgroup recovered fully. The overall mortality was 19.7%. The mortality rate of brain abscess from otolaryngologic sources was 3.8%, whereas that from nonotolaryngologic sources was 24%.
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PMID:Brain abscess: with special reference to otolaryngologic sources of infection. 760 12

In a double-blind randomized trial, imipenem/cilastatin (I/C; 500 mg every 6 hours) and ampicillin/sulbactam (A/S; 3 g every 6 hours) were compared in regard to their efficacy for initial empirical and definitive parenteral treatment of limb-threatening pedal infection in diabetic patients. The major endpoints of treatment were cure (resolution of soft-tissue infection), failure (inadequate improvement, necessitating a change in antibiotic therapy), and eradication (clearance of all pathogens from the wound and any bone cultures). Patients in the two treatment groups were similar in regard to the severity of diabetes; presence of neuropathy and peripheral vascular disease; site and severity of infection; pathogen isolated; and frequency of osteomyelitis (associated with 68% of the 48 A/S-treated infections and 56% of the 48 I/C-treated infections). After 5 days of empirical treatment, improvement was noted in 94% of the A/S and 98% of the I/C recipients. At the end of definitive treatment (days' duration [mean +/- SD]: 13 +/- 6.5 [A/S], 14.8 +/- 8.6 [I/C]), outcomes were similar: cure, 81% (A/S) vs. 85% (I/C); failure, 17% (A/S) vs. 13% (I/C); and eradication, 67% (A/S) vs. 75% (I/C). Treatment failures were associated with the presence of antibiotic-resistant pathogens and possible nosocomial acquisition of infections. The number of adverse events among patients in the two treatment groups was similar: 7 in the A/S group (4 had diarrhea and 3 had rash) and 9 in the I/C group (5 had diarrhea, 2 had severe nausea, 1 had rash, and 1 had seizure). Efficacy of A/S and I/C is similar for initial empirical and definitive treatment of limb-threatening pedal infection in patients with diabetes.
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PMID:Use of ampicillin/sulbactam versus imipenem/cilastatin in the treatment of limb-threatening foot infections in diabetic patients. 807 57

The efficacy and safety profile of meropenem were analyzed according to data collected from hospitalized pediatric patients aged 4 days to 20 years who had serious bacterial infections and were treated in a major teaching hospital in Taipei. Of the 53 patients enrolled, 47 were analyzed for clinical efficacy and 53 for safety. The satisfactory clinical response rate was 57% in lower respiratory tract infection, 58% in septicemia, 100% in complicated urinary tract infection, osteomyelitis, and central nervous system infection, 83% in skin and soft tissue infection, and 93% in intra-abdominal infection. Eleven (21%) patients experienced adverse events related to meropenem. The most commonly observed adverse reactions were elevated hepatic enzymes (7.5%), increased alkaline phosphatase (3.8%), and thrombocytosis (3.8%). There was no meropenem-related seizure, withdrawal, or death. The results of this study suggested that meropenem is well tolerated even in young infants, and is effective in treating serious childhood bacterial infection. However, this study also identified a proportion of hospitalized pediatric patients with isolates that were resistant to meropenem. The trends in meropenem resistance among nosocomially acquired bacteria should be monitored closely.
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PMID:Empirical monotherapy with meropenem in serious bacterial infections in children. 1182 8

We present four cases of cerebral amebae infection treated at our neurosurgical department. Patient 1 was a 12-year-old male with skin lesions of 2 years' progression involving the midface. He received a corticosteroid course, and, after that, he presented a right body hemiparesis. Patient 2 was a 5-year-old male, with a past surgical history of fibula fracture and osteomyelitis of 1-year evolution, associated with lesions of the surrounding skin that presented with partial seizures. Patient 3 was a 3-year-old female who presented with a stroke-like episode and with partial seizures. Patient 4 was a 6-year-old male who had ulcerative lesions in the face of 1-year evolution. After a corticosteroid course, he presented with right-body hemiparesis. All patients were human immunodeficiency virus-negative and died 1 month or less after surgery because of progressive evolution of the disease. Histopathology revealed granulomatous amebic encephalitis. All patients revealed infection from Balamuthia mandrillaris (Leptomyxiidae). Treatment consisting of pentamidine, clarithromycin, fluconazole, and 5-fluorocytosine was ineffective. Although extremely uncommon, granulomatous amebic encephalitis should be considered in the differential diagnosis of cerebral lesions while nonspecific, associated granulomatous skin lesions support the diagnosis of amebiasis.
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PMID:Pediatric granulomatous cerebral amebiasis: a delayed diagnosis. 1189 83

Over recent years frameless stereotactic systems have begun replacing framed systems for many neurosurgical procedures. However, little has been published regarding the use of these systems to guide intracranial electrode implantation for epilepsy surgery patients. Here we report our experience utilising such a system to insert depth electrodes and subdural grid electrodes. The SteathStation Image-Guided System (SSIGS) (Sofamor Danek, Memphis TN.) was used to insert bilateral depth electrodes in 13 patients, of whom 5 also underwent the insertion of subdural grids or strip electrodes. Initially, a surgical plan based on an entry and target point on axial and sagittal images was performed for the insertion of electrodes. Navigational views, using three-planar images, were then performed to determine which structures the electrodes would pass through to be correctly placed in the amygdala and hippocampus. The correct site of electrode implantation was confirmed post-operatively by spiral CT scans in 4 patients (which were then co-registered to the pre-implantation MRI using a surface matching technique) and the other 9 patients by post-implantation MRI. The SSIGS was found to have a mean registration error of 2.0 mm (range 1.8-2.5) in 10 cases; in the 3 cases where the error was greater than 2.5 mm a surfacemerge technique was used with a mean error 0.9 (0.8-1.00). The post-implantation MRI or CT-MRI co-registration confirmed an accurate electrode placement in the mesial temporal region in all cases. Seizure onset lateralisation was achieved in 11 patients, all of whom went onto formal resections based on these results. The only long-term complication was a case of osteomyelitis which required removal of the bone flap. 73% of patients had an excellent seizure outcome. Frameless stereotactic systems can be safely used to intracranial electrodes, avoid the disadvantages of the framed system and have the added advantage of the surgeon being able to visualise the trajectory and to adjust this to avoid vital structures. As well they eliminate surgical obstruction to the insertion of subdural grids at the same operation, which may be caused by a framed system.
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PMID:Insertion of depth electrodes with or without subdural grids using frameless stereotactic guidance systems--technique and outcome. 1204 29

We report what we believe to be the first two cases of acute interstitial nephritis associated with vancomycin and ceftriaxone therapy in adults. A 40-year-old man with a medical history of traumatic brain injury and tonic-clonic seizure disorder was admitted to the hospital with a seizure episode and temperature of 103 degrees F. He was administered ceftriaxone, vancomycin, and acyclovir for suspected bacterial and/or viral meningitis. On day 4, the patient was noted to have diffuse erythematous plaques on the neck, chest, arms, abdomen, and back, as well as an elevated serum creatinine level of 3.1 mg/dl (baseline 0.9 mg/dl) and an elevated eosinophil count (6%). Dermatology and renal consultations were obtained, and a diagnosis of suspected acute interstitial nephritis was made. After a 3-day course of antibiotic treatment (day 4 of hospitalization), all antibiotics were discontinued and topical triamcinolone 0.1% ointment and hydrocortisone 2.5% cream were begun for the rash. The patient was discharged 5 days later with improvement in the rash, serum creatinine level (1.0 mg/dl), and eosinophil count (0.9%). A 59-year-old woman with a medical history of diabetes mellitus was admitted to the hospital with a serum creatinine level of 3.7 mg/dl, eosinophil count of 8.4%, and fractional excretion of sodium of 2.94%. The patient had been receiving treatment with vancomycin and ceftriaxone for osteomyelitis for 28 days before this hospital admission. Her baseline serum creatinine level (before antibiotic therapy) was 1.0 mg/dl. Renal consultation was obtained, and a diagnosis of probable acute interstitial nephritis was made. Ceftriaxone and vancomycin were discontinued, and her serum creatinine level gradually decreased to 3.3 mg/dl and then further to 1.5 mg/dl over the next 3 months. Use of the Naranjo adverse drug reaction probability scale revealed that the adverse reaction was possible in the first case and probable in the second case. Health care professionals need to be cognizant that drug-induced acute interstitial nephritis can be associated with concomitant administration of ceftriaxone and vancomycin therapy. Early detection of this rare adverse reaction is paramount in order to prevent acute renal insufficiency.
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PMID:Acute interstitial nephritis associated with coadministration of vancomycin and ceftriaxone: case series and review of the literature. 1789 1

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy.
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PMID:Osteopetrosis. 1923 11

A variety of neurological problems have affected the lives of giants in the jazz genre. Cole Porter courageously remained prolific after severe leg injuries secondary to an equestrian accident, until he succumbed to osteomyelitis, amputations, depression, and phantom limb pain. George Gershwin resisted explanations for uncinate seizures and personality change and herniated from a right temporal lobe brain tumor, which was a benign cystic glioma. Thelonious Monk had erratic moods, reflected in his pianism, and was ultimately mute and withdrawn, succumbing to cerebrovascular events. Charlie Parker dealt with mood lability and drug dependence, the latter emanating from analgesics following an accident, and ultimately lived as hard as he played his famous bebop saxophone lines and arpeggios. Charles Mingus hummed his last compositions into a tape recorder as he died with motor neuron disease. Bud Powell had severe posttraumatic headaches after being struck by a police stick defending Thelonious Monk during a Harlem club raid.
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PMID:Neurological problems of jazz legends. 1966 87

Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and mental retardation. The absence of urticarial reaction to intradermal injection of histamine is a sign of great diagnostic value, but this is common to all types of HSAN. The most frequent complications of this disease are corneal scarring, multiple fractures, joint deformities, osteomyelitis, and disabling self-mutilations. Malignant hyperthermia and sepsis are major causes of mortality. We relate the first observations of two Tunisian children with genetically confirmed HSAN IV. Our goal is to review the clinical aspects of this mysterious neuropathy and to emphasize the peculiarities of its management. These two patients are brothers from 1st-degree consanguineous parents (cousins) with no particular medical history. The 1st patient, the family's 1st child, presented in the 1st h of life with hypotonia and persistent fever, which was refractory to antipyretics. At the age of 8 months, the patient presented recurrent febrile seizures and developed significant self-mutilations of the fingers and tongue. He died 3 months later in a context of multivisceral failure from sepsis and malignant hyperthermia. The 2nd patient, currently aged 4 years, was born after a normal sister. He consulted in the neonatal period for a high fever. The diagnosis of HSAN IV was rapidly suspected and genetically confirmed. In fact, this patient is homozygous for the NTRK1 gene, whereas his sister and both parents are heterozygous. Special predispositions have been taken to improve the course of the disease such as air conditioning to control hyperthermia, a dental tray to reduce the injuries resulting from self-mutilation, regular moistening of the eyes to avoid corneal drying, and chlorpromazine to control hyperactivity and reduce injuries. The good progression with all these predispositions and others underlines the importance of appropriate multidisciplinary management and close monitoring of patients suffering from HSAN IV, especially during the first 3 years of life. Indeed, mortality, behavioral disorders, and mental retardation significantly decrease after this age. New curative treatments are expected in the next decade.
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PMID:[Hereditary sensory and autonomic neuropathy type IV: a report on two cases]. 2139 70


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