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151.
Coulter-Mackie MB Lian Q Applegarth DA Toone J Waters PJ Vallance H 《Clinical biochemistry》2008,41(7-8):598-602
ObjectivesTo test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1).Design and methodsSamples of liver and/or DNA from 81 patients were submitted to our laboratory for diagnostic testing for PH1. Using a panel of selected mutations, DNA was examined in 64 cases, of which 36 had the diagnosis of PH1 confirmed by liver AGT assay. DNA sequencing was employed if mutation testing revealed only one mutation.ResultsIdentification of 100% of the mutations in the AGT-confirmed samples led to the development of a focused testing panel currently involving 4 common mutations, 7 mutations recurring at lower frequency and 5 with apparent ethnic associations.ConclusionsThis mutation panel alone would have identified the two causative mutations in 64% of the PH1 samples. 相似文献
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154.
IL-17 immunity has been shown to be essential for mucocutaneous protection against Candida albicans in mice and humans. However, mice with defective IL-17 immunity display broader susceptibility, as they are also prone to infections with diverse infectious agents at various sites. Humans with genetic defects affecting their IL-17 immunity usually suffer from chronic mucocutaneous candidiasis (CMC): recurrent or persistent infections of the skin, nails, and mucosae with C. albicans, with or without other clinical signs. Most patients with autosomal dominant (AD) hyper-IgE syndrome (HIES) due to STAT3 deficiency or AD STAT1 gain-of-function display impaired IL-17-producing T-cell development, and CMC is one of their principal clinical manifestations. Similarly, patients with autosomal recessive (AR) autoimmune polyendocrine syndrome type 1 (APS-1) caused by AIRE deficiency have high levels of neutralizing autoantibodies against IL-17A, IL-17F and/or IL-22 and present CMC as their only infectious disease. Finally, CMC is the main clinical phenotype observed in patients with inborn errors specifically affecting IL-17 immunity. Indeed, patients with AD IL-17F deficiency or AR IL-17RA or ACT1 deficiency display CMC and, to a lesser extent, superficial staphylococcal diseases. Candida infection was recently reported in psoriasis patients treated with anti-IL-17A antibodies. Careful monitoring for CMC is thus important during anti-IL-17 treatment. 相似文献
155.
《Seizure》2014,23(1):10-15
PurposeTo examine the characteristics of epilepsy in children with neurometabolic disorders to reveal co morbidities and optimal treatment.MethodsWe retrospectively reviewed the files of children diagnosed with a neurometabolic disorder and treated at Jordan University Hospital between 2001 and 2012. We examined the incidence, age at onset, clinical characteristics, and medical control of epilepsy.ResultsCases treated (40 boys, 30 girls) included the different categories of neurometabolic diseases. Twenty-nine patients (41.4%) were also diagnosed with epilepsy, with age at seizure onset ranging from 3 days to 7 years. All types of seizures were reported, but generalized tonic–clonic and mixed types were most common (16/29 patients, 55.2%). Patients were on either a single antiepileptic drug (16/29, 55.2%) or multiple drugs (13/29, 44.7%), and most drugs prescribed were older generation anticonvulsants. Complete seizure control was achieved in 19/29 patients (65.5%), partial control in 7/29 (24.1%), and poor or no control in 3/29 (10.3%). EEG recordings were missing from the medical files of 10/29 patients. The first EEG revealed epileptiform activity in 12/19 patients (63.2%) and was normal in 7/19 patients (36.8%).ConclusionsEpilepsy was diagnosed in about half of pediatric neurometabolic disease patients, with the majority of seizure cases well controlled. 相似文献
156.
《International journal of psychiatry in clinical practice》2013,17(3):162-169
Objective. The objective of this review is to raise awareness of the prevalence of inborn errors of metabolism, in particular NP-C, in psychiatric populations. Methods. This review summarises research presented at a satellite symposium held on 28 August 2010 at the 23rd European College of Neuropsychopharmacology (ECNP) meeting. Results and Conclusion. Organic causes of psychoses may have an unrecognised yet notable prevalence, particularly in adolescent or adult patients. Several inherited metabolic disorders can present with psychiatric signs. In some disorders, such as Niemann-Pick type C (NP-C), the disease may remain unrecognised for many years due to a heterogeneous and subtle clinical presentation. In patients presenting with psychoses, subtle signs such as vertical supranuclear gaze palsy, ataxia and splenomegaly should raise the suspicion of NP-C. Miglustat is so far the only approved treatment for NP-C. Miglustat can stabilise neurological disease, particularly in adolescent or adult-onset patients who are detected as early as possible, before irreversible neurological damage occurs. 相似文献
157.
Aman Wadhwa Yanjun Chen Anna Holmqvist Jessica Wu Emily Ness Mariel Parman Michelle Kung Lindsey Hageman Liton Francisco Elizabeth Braunlin Weston Miller Troy Lund Saro Armenian Mukta Arora Paul Orchard Smita Bhatia 《Biology of blood and marrow transplantation》2019,25(2):328-334
Allogeneic blood or marrow transplantation (BMT) is currently considered the standard of care for patients with specific inborn errors of metabolism (IEM). However, there is a paucity of studies describing long-term survival and cause-specific late mortality after BMT in these patients with individual types of IEM. We studied 273 patients who had survived ≥2 years after allogeneic BMT for IEM performed between 1974 and 2014. The most prevalent IEM in our cohort were X-linked adrenoleukodystrophy (ALD; 37.3%), Hurler syndrome (35.1%), and metachromatic leukodystrophy (MLD; 10.2%). Conditional on surviving ≥2 years after BMT, the overall survival for the entire cohort was 85.5 ± 2.4% at 10 years and 73.5 ± 3.7% at 20 years. The cohort had a 29-fold increased risk of late death compared with an age- and sex-matched cohort from the general US population (95% CI, 22- to 38-fold). The increased relative mortality was highest in the 2- to 5-year period after BMT (standardized mortality ratio [SMR], 207; 95% confidence interval [CI], 130 to 308) and declined with increasing time from BMT, but remained elevated for ≥21 years after BMT (SMR, 9; 95% CI, 4 to 18). Sequelae from the progression of primary disease were the most common causes of late mortality in this cohort (76%). The use of T cell-depleted grafts in patients with ALD and Hurler syndrome was a risk factor for late mortality. Younger age at BMT and use of busulfan and cyclosporine were protective in patients with Hurler syndrome. Our findings demonstrate relatively favorable overall survival in ≥2-year survivors of allogeneic BMT for IEM, although primary disease progression continues to be responsible for the majority of late deaths. 相似文献
158.
《Jornal de pediatria》2014,90(6):572-579
ObjectivesTo characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism.MethodsThis was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed.ResultsTwenty-one patients were included (median age 10 years, range 1–25 years), all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1–132 months), and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008).ConclusionsDiagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients. 相似文献
159.
160.
Liver transplantation in familial amyloidotic polyneuropathy (FAP). A comparative study of transplanted and non-transplanted patient's survival 总被引:1,自引:0,他引:1
O. B. Suhr V. Ando G. Holmgren L. Wikström S. Frhnan G. Herlenius B.-G. Ericzon 《Transplant international》1998,11(S1):S160-S163
Abstract The purpose of the present study was to evaluate the impact of liver transplantation on familial amyloidotic polyneuropathy (FAP met-30) patients' survival. Forty-five FAP patients were involved in the study; 15 non-transplanted FAP patients and 30 liver-transplanted patients. All patients' records were scrutinised for information on disease duration. Preoperative nutritional status was evaluated in all patients. No difference in survival was observed for transplanted patients overall compared to historical controls. However, for cases in good nutritional status, an increased survival can be expected as a significantly increased mortality rate for malnourished patients was observed ( P < 0.05). Increased survival has so far not been found for transplanted FAP patients. However, none of the transplanted cases has yet reached the expected survival time for non-transplanted FAP control patients, which is 14 years. A high fatality rate of malnourished patients transplanted late in the course of the disease contributed significantly to the mortality among transplanted patients. 相似文献