20 angezeigte Datensätze · Seite 1 · Publikationszuordnung geprüft. Dieselbe Publikation kann in beiden Sammlungen vorkommen.
[Complex glycerol kinase deficiency in three children]. ↗FindZebra · Publikationszuordnung geprüft · 2007-10-01PMID 17937854Publikationstyp: Research Support, Non-U.S. Gov't, Journal Article, English Abstract, Case ReportsNur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
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FindZebra
Datensatz: duchenne:17937854
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: duchenne:2482550
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: duchenne:7624173
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: fabry:21946453
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: gaucher:9221177
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: fabry:14713976
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: gaucher:34668825
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: gaucher:9557496
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: gaucher:3878578
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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Duchenne muscular dystrophy is a progressive genetic disease with no cure at present. Children suffering from this disease eventually become wheelchair bound and die in their late teens. Paediatricians caring for the child with Duchenne Muscular Dystrophy in resource poor settings face a lot challenges. These challenges include: poverty, inadequate multidisciplinary care, emotional burn-out of parents and lack of facilities for dystrophin assay or genetic testing.
Auszug in der Originalsprache. Odinaka KK, Nwolisa EC. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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FindZebra
Datensatz: duchenne:25838855
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: gaucher:96723
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: duchenne:16566880
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: gaucher:30080752
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: gaucher:6494933
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase. Intravenously administered enzyme replacement therapy is the first-line therapy for Gaucher disease type 1 and substrate reduction therapy represents an alternative oral treatment. Here is a rare case report of Gaucher disease in South China.
Our patient was a 15-year-old Han Chinese boy presenting with fever, edema, and gradually increasing abdominal girth. A physical examination revealed obvious hypoevolutism and hepatomegaly, and laboratory tests and imaging examinations showed severe pulmonary interstitial fibrosis, infection, and moderate anemia. A final diagnosis of Gaucher disease was confirmed after examining the splenic pathological section derived from a splenectomy performed 6 years ago. His recovery improved after receiving anti-infection, diuresis, blood transfusion, and hepatoprotection and so on. However, enzyme replacement therapy was not adopted by our patient because his family could not afford it.
A rare case of Gaucher disease is reported here to emphasize the importance of early recognition by clinical manifestation and histological findings. Gaucher disease should be considered in the differential diagnosis of children with unexplained symptoms of multiple systems.
Auszug in der Originalsprache. Yang M. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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FindZebra
Datensatz: gaucher:30342532
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: duchenne:33173022
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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Gaucher's Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher's Disease .G.D is rare in Yazd.
We reported a patient that presented with weakness, pallor and gradually increasing abdominal girth. Clinical examination and history pointed to be a lipid storage disease. Final diagnosis of G.D. was reported after examining the bone marrow smears. Confirmation of diagnosis on Gaucher's disease was performed by measurement of glucocerebrosidase level.
We report a case of G.D. to emphasize the importance of early recognition by clinical manifestation and histological findings. G.D. should be considered in the differential diagnosis of children with unexplained splenomegaly.
Auszug in der Originalsprache. Binesh F, Yousefi A, Ordooei M, Bagherinasab M. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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FindZebra
Datensatz: gaucher:24575292
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: hae:25208595
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are progressive neuromuscular disorders caused by mutations in the dystrophin gene. The management of anesthesia in patients with BMD is complicated because they are highly sensitive to the conventional anesthetics such as volatile anesthetics and muscle relaxants. It is reported that anesthesia in patients with DMD is associated with several complications. However, a few case reports have been published on adult patients with BMD undergoing surgery with general anesthesia. Reports indicate that children with BMD may experience some serious complications with flurane-inhaled anesthesia. However, no study has yet shown that the use of flurane-induced anesthesia in adults with DMD carries high risks.
We describe a 56-year-old woman with BMD who was scheduled for laparoscopic hysterectomy and bilateral adnexectomy under general anesthesia due to a mass in the uterus. The patient was diagnosed with BMD 20 years back and reported that during this period, she was able to walk slowly with help during her daily life. Additionally, she also had a history of hypertension since 4 years and type 2 diabetes mellitus since 2 years.
The patient was postmenopausal and presented with abnormal uterine bleeding and elevated CA125. Abdominal ultrasonography revealed diffuse enlargement of the uterus and hypoechoic internal echoes. These findings were suggestive of diffuse adenomyosis with multiple uterine leiomyomas, which would have adverse effects later in her life. Therefore, the patient required surgery to address the symptoms and further confirm the diagnosis. The final diagnosis was confirmed by histopathological analysis.
The patient was scheduled for laparoscopic hysterectomy and bilateral adnexectomy. Anesthesia was induced and maintained by a combination of intravenous and inhalation anesthetic agents, particularly cisatracurium besilate and inhaled. sevoflurane.
The duration of anesthesia and postoperative
Auszug in der Originalsprache. Zhou SY, Wang D, Liu C, Zhang S, Shan BL, Ma HC. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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FindZebra
Datensatz: duchenne:32311965
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: hae:10769859
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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