Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0243026 (sepsis)
 52,417 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an exceptional case of fulminant endophthalmitis after uncomplicated extracapsular cataract extraction with posterior chamber lens implantation. The first unusual finding was the causative organisms, group G streptococci. These organisms are commonly found as normal flora of the skin, pharynx and gastrointestinal tract. They are also well known as pathogens of neonatal sepsis, otitis media and pneumonia, but there are only three case reports describing a streptococcus G endophthalmitis. The second unusual finding was the delayed onset of the fulminant endophthalmitis, occurring later than 9 days after surgery. A retrospective analysis of 17 additional cases showed that endophthalmitis occurred either during the first 5 days after surgery or later than 35 days after surgery. If endophthalmitis developed shortly after surgery it progressed rapidly and with intense inflammation. The other cases showed more chronic inflammatory reaction. From the latter finding we conclude that long postoperative monitoring remains necessary even if at first no signs of intraocular inflammation are detectable.
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PMID:[Group G streptococci as pathogens of postoperative endophthalmitis]. 189 40

Although short courses of 4-quinolones are effective in routine infections, longer courses are necessary for chronic, deep-seated sepsis. Oral 4-quinolones exhibit efficacy equal to that of traditional parenteral regimens against osteomyelitis caused by gram-negative pathogens and have proved successful against chronic prostatitis and suppurative otorhinologic infections. The efficacy of these agents in the prophylaxis of urinary tract infection, travelers' diarrhea, and infections in neutropenic patients suggests other indications for potential widespread, long-term use. It is therefore important that the tolerability of regimens extending from 3-6 weeks to greater than or equal to 12 months has proved excellent. Potentially serious adverse reactions (including arthritis, cataract formation, and mutagenesis) noted in chronic animal toxicity or in vitro studies have no apparent human counterparts. However, experience is limited, and restrictions on use of the quinolones in children--except where real benefit outweighs theoretical risk--should not yet be abandoned.
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PMID:Long-term use of quinolones and their safety. 267 58

Sixty p. cent of endophthalmitis were seen after recent ocular surgery. Another 14% were seen after surgery performed some years before. Non perforating trauma were responsible for 9.5%, and another 9.5% were seen complicating old ocular lesions by chemical, mechanical or infectious agents. Only in 7% the etiology was endogenous in one case general sepsis by meningococci, in another case, mycotic infection after prolonged systemic cortisone treatment, and one case in which endophthalmitis remained unexplained. Most cases complicating recent ocular surgery were seen after cataract extraction.
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PMID:[Etiology of endophthalmitis]. 380 86

A 51-year-old man who was being treated with corticosteroids for chronic extrinsic asthma developed biliary tract sepsis, candidemia, and Candida endophthalmitis with vitreous fluff-ball lesions in both eyes. Extensive vitreous fibrosis and retinal detachment with loss of useful vision occurred in his left eye, which had a vitreous biopsy. Useful vision was maintained in his right eye with two full courses of systemic amphotericin B, 5-flucytosine, and a cataract extraction. Encapsulated Candida organisms remained in the vitreous of his right eye at the time of death. Useful vision can be preserved without aggressive vitreous surgery and intravitreal anti-fungal agents in eyes with intravitreal Candida albicans.
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PMID:Treatment of Candida endophthalmitis. 610 Nov 28

Ten of 18 children in a highly inbred Arab kindred suffered from either ataxia telangiectasia (AT) or a variant syndrome consisting of ataxia, microcephaly, and congenital cataract (AMC). Four of the nine afflicted children were treated in our unit when they developed lymphomas (both Hodgkin's and non-Hodgkin's including Burkitt's). They were given chemotherapy (either standard COMP or low-dose ABV/CVPP). The children with non-Hodgkin's lymphomas died of sepsis after receiving full-dose COMP. Low-dose ABV/CVPP brought about a 20-month remission in one child with nodular sclerosing Hodgkin's lymphoma and both AT and AMC, but she developed a preleukemic syndrome and her parents refused further treatment; she too died. A fourth child, also with nodular sclerosing Hodgkin's lymphoma, is currently in complete remission after ABV/CVPP. Treatment of lymphomas in patients with AT is extraordinarily difficult and has potential side effects so grave as to necessitate careful monitoring and individualized protocols.
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PMID:Ataxia telangiectasia and lymphoma: an indication for individualized chemotherapy dosing--report of treatment in a highly inbred Arab family. 762 85

From 1977 till 1991, the diagnosis of systemic lupus erythematosus was made on 137 children aged 18 years or under in Chang Gung Memorial Hospital. The medical records were reviewed and the clinical data were analysed with emphasis on the morbidity and mortality of this disease. The clinical and laboratory characteristics were similar to the findings from most other reports. Renal failure accounted for 8% of the initial presentation. The non-infectious complications were, in the order of frequencies, hypertension, avascular necrosis of femoral head, cataract, encephalopathy, and venous thrombosis. Sepsis, cutaneous infection and urinary tract infection were the frequently encountered infectious complications. The major causes of death in childhood onset systemic lupus erythematosus were sepsis (42%) and renal failure (30.7%). Forty patients were lost to follow-up. The 5-year survival rate, calculated by life-table, was 76.3%.
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PMID:The morbidity and mortality associated with childhood onset systemic lupus erythematosus. 806 33

Classical galactosemia, characterized clinically by acute hepatic dysfunction, sepsis, cataract, and failure to thrive, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT). Galactose restriction normalizes these acute symptoms; however, long-term complications such as intellectual deficits and ovarian failure are conspicuous in the majority of patients. Here we report two Turkish siblings with classical galactosemia. The clinical course of the two children differed markedly: only the older girl suffered from severe acute symptoms during the neonatal period, and she developed greater mental retardation than her younger affected brother. The functional activity of GALT was virtually absent in each affected children. The mother and two healthy siblings exhibited approximately 50% normal GALT activity and the father approximately 25%. Molecular analysis revealed that these two galactosemic siblings were homozygous for a stop codon mutation of E340X in GALT exon 10. Moreover, two additional mutations, a neutral polymorphism L218L and N314D, which are typical for the Duarte-I variant, were found in the same GALT allele. The two healthy siblings and the parents were heterozygous for these combinations of mutations. In addition, the father's second GALT allele revealed three intron mutations at nucleotide position 1105 (G-->C), 1323 (G-->A) and 1391 (G-->A) and the N314D mutation, which correspond to the mutations of Duarte-2 variant. Our findings indicate that in classical galactosemia several distinct mutations can be present in one allele (in cis) of the GALT gene. Therefore it seems to be necessary to examine all introns and exons of the GALT gene in galactosemic patients who do not carry the Q188R mutation or another frequent mutation in the GALT gene.
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PMID:Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia. 976 50

The study was conducted from November 1995 to May 1996 at the one general hospital in Seoul. The total subjects of this study were 412 patients who have the experience of fall accident, among them 31 was who have fallen during hospitalization and 381 was who visited emergency room and out patient clinic. The purposes of this study were to determine the characteristics, risk factors and results of fall accident and to suggest the nursing strategies for prevention of fall. Data were collected by reviewing the medical records and interviewing with the fallers and their family members. For data analysis spss/pc+ program was utilized for descriptive statistics, adjusted standardized X2-test. The results of this study were as follows: 1) Total subjects were 412 fallers, of which 245 (59.5%) were men and 167 (40.5%) were women. Age were 0-14 years 79 (19.2%), 15-44 years 125 (30.4%), 45-64 years 104 (25.2%), over 65 years 104 (25.2%). 2) There was significant association between age and the sexes (X2 = 39.17, P = 0.00). 3) There was significant association between age and history of falls (X2 = 44.41, P = .00). And history of falls in the elderly was significantly associated with falls. 4) There was significant association with age and medical diagnosis (X2 = 140.66, P = .00), chief medical diagnosis were hypertension (34), diabetes mellitus (22), arthritis (11), stroke (8), fracture (7), pulmonary tuberculosis (6), dementia (5) and cataract (5). 5) There was significant association between age and intrinsic factors: cognitive impairment, mobility impairment, insomnia, emotional problems, urinary difficulty, visual impairments, hearing impairments, use of drugs (sedatives, antihypertensive drugs, diuretics, antidepressants) (P < 0.05). But there was no significant association between age and dizziness (X2 = 2.87, P = .41). 6) 15.3% of total fallers were drunken state when they were fallen. 7) Environmental factors of fall accident were unusual posture (50.9%), slips (35.2%), trips (9.5%) and collision (4.4%). 8) Most of falls occurred during the day time, peak frequencies of falls occurred from 1 pm to 6 pm and 7 am to 12 am. 9) The places of fall accident were roads (22.6%), house-stairs (16.7%), rooms, floors, kitchen (11.2%), the roof-top, veranda, windows (10.9%), hospital (7.5%), ice or snowy ways (5.8%), bathroom (4.9%), playground, park (4.9%), subway-stairs (4.4%) and public-bathrooms (2.2%). 10) Activities at the time of fall accident were walking (37.6%), turning around or reaching for something (20.9%), going up or down stairs (19.2%), exercise, working (17.4%), up or down from a bed (2.7%), using wheelchair or walking aids, standing up or down from a chair (2.2%) and standing still (2.2%). 11) Anatomical locations of injuries by falls were head, face, neck (31.3%), lower extremities (29.9%), upper extremities (20.6%), spine, thorax, abdomen or pelvic contents (11.4%) and unspecified (2.9%). 12) Types of injures were fracture (47.6%), bruises (13.8%), laceration (13.3%), sprains (9.0%), headache (6.6%), abrasions (2.9%), intracranial hemorhage (2.4%) and burns (0.5%). 13) 41.5% of the fallers were hospitalized and average of hospitalization was 22.3 days. 14) The six fallers (1.46%) died from fall injuries. The two fallers died from intracranial hemorhage and the four fallers died of secondary infection; pneumonia (2), sepsis (1) and cellulitis (1). It is suggested that 1) Further study is needed with larger sample size to identify the fall risk factors. 2) After the fall accident, comprehensive nursing care and regular physical exercise should be emphasized for the elderly person. 3) Safety education and safety facilities of the public place and home is necessary for fall prevention.
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PMID:[A study on fall accident]. 1043 5

Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an autosomal-dominant macrothrombocytopenia combined with neutrophil inclusions that differ from those found in May-Hegglin syndrome or Chediak-Higashi syndrome or the Dohle bodies described in patients with sepsis. These inclusions are, however, similar to those described in Fechtner syndrome. Other features of Alport syndrome, though, including deafness, cataracts, and nephritis, are absent in Sebastian platelet syndrome. Epstein syndrome is characterized by macrothrombocytopenia without neutrophil inclusions, in addition to the classical Alport manifestations-deafness, cataracts, and nephritis-and it is also inherited in an autosomal-dominant mode. We mapped the disease-causing gene to the long arm of chromosome 22 in an Italian family with Fechtner syndrome, 2 German families with the Sebastian platelet syndrome, and an American family with the Epstein syndrome. Four markers on chromosome 22q yielded an LOD score greater than 2.76. A maximal 2-point LOD score of 3.41 was obtained with the marker D22S683 at a recombination fraction of 0.00. Recombination analysis placed the disease-causing gene in a 3.37-Mb interval between the markers D22S284 and D22S693. The disease-causing gene interval in these 3 syndromes is similar to the interval described recently in an Israeli family with a slightly different Fechtner syndrome than the one described here. Recombination analysis of these 3 syndromes refines the interval containing the disease-causing gene from 5.5 Mb to 3.37 Mb. The clinical likeness and the similar interval containing the disease-causing gene suggest that the 3 different syndromes may arise from a similar genetic defect.
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PMID:Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. 1107 40

Classical galactosaemia (Mendelian Inheritance in Man, no 230400) is an autosomal recessive disorder of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). The GALT enzyme is responsible for the conversion of galactose-1-phosphate with UDP glucose to glucose-1-phosphate and UDP galactose. The gene encoding for GALT is located on chromosome 9p13. Patients present with hepatomegaly, liver failure, food intolerance, hypoglycaemia, muscle hypotonia, sepsis and cataract. Treatment involving the total restriction of lactose-containing foods is life-saving but many patients develop late complications such as problems of mental development, disorders of motor function, disorders of speech and hypergonadotrophic hypogonadism.
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PMID:[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. 1475 29


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