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FindZebra
Datensatz: fac:8692810
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Amyloidosis is a group of disorders that occurs due to the aggregation of insoluble and misfolded proteins in the extracellular space, eventually resulting in organ dysfunction. Type II amyloidosis is caused by the deposition of transthyretin (TTR), which will be the main focus of this article. Deposition of TTR in the myocardium results in a restrictive form of cardiomyopathy. TTR can also deposit in the flexor tenosynovium resulting in carpal tunnel syndrome (CTS). CTS develops five to ten years prior to cardiac amyloidosis (CA), and therefore, the temporal relationship allows CTS to be a diagnostic indicator for CA. This report discusses a 65-year-old female and a 76-year-old male, both presenting with pain and paresthesia in the distribution of the median nerve in the left and right wrist. In each case, the diagnosis of bilateral CTS was supported by a positive Phalen's maneuver and Tinel's sign. Subsequent tenosynovial and transverse carpal ligament biopsies were performed with Congo red stain revealing amyloid deposits of TTR monomers. This prompted the investigation into possible cardiac involvement. Following cardiac evaluation, the diagnosis of CA was established for the deposition of TTR amyloid monomers. CA has gained much attention in the medical community due to the improvements in cardiac imaging, therapeutic interventions, and diagnostic indicators. Medical professionals should be urged to have a high level of clinical suspicion and refer patients with CTS and select risk factors for cardiac evaluation.
Auszug in der Originalsprache. Boyle RP, Sharan J, Schwartz G. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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Datensatz: fac:34017661
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Hereditary angioedema (HAE) is a potentially life-threatening group of conditions that is often underdiagnosed or misdiagnosed. As HAE is typically diagnosed by detecting C1 inhibitor deficiency, there is a critical need for methods that can identify affected individuals with normal C1 inhibitor. The recent discovery of associations between PLG K330E and ANGPT1 A119S and HAE of unknown genetic cause (HAE-U), has raised the possibility that genetic evaluation could be used to diagnose HAE-U in patients with unexplained angioedema or non-confirmatory laboratory testing. We analyzed genome sequences from a generally healthy population cohort of 2820 adults and identified PLG K330E in one individual. Subsequent review of this participant's medical history revealed symptoms clinically attributed to allergy of unknown etiology but that are consistent with published descriptions of HAE patients carrying the PLG K330E variant. The participant, a 31 year old female, reported lip and tongue angioedema, without wheals, which did not respond to treatment with steroids or antihistamines. The genotype-first approach demonstrated that detection of PLG K330E in undiagnosed or misdiagnosed individuals can identify patients actually affected with HAE-U. The genetic diagnosis will facilitate selection of appropriate treatment, discontinuation of therapies ineffective for this condition, and timely diagnosis of affected family members. The results support a role of PLG K330E in the pathogenesis of HAE and suggest that genetic testing be considered as an approach to diagnose patients with unexplained angioedema.
Auszug in der Originalsprache. Bodian DL, Vilboux T, Hauser NS. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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Datensatz: hae:31131012
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Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: gaucher:10714667
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.
Auszug in der Originalsprache. Bianco B, Christofolini DM, Conceição GS, Barbosa CP. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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Datensatz: duchenne:28954035
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase. Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme replacement therapy can be delivered only by intravenous infusion every other week. The oral substrate reduction therapy miglustat (Zavesca®) has been available in Europe since 2002 for the treatment of patients with mild or moderate Gaucher disease type 1 for whom enzyme replacement therapy is unsuitable or not a therapeutic option. There are few published real-world data on the use of miglustat as a maintenance therapy in Gaucher disease type 1 patients switched from previous enzyme replacement therapy. We report a case series of three patients who were switched from long-term enzyme replacement therapy to miglustat for various reasons. All three patients were Caucasian and had confirmed Gaucher disease type 1. An 80-year-old man requested a switch to oral miglustat therapy in preference to ongoing intravenous enzyme replacement therapy, a 57-year-old woman was commenced on miglustat due to a shortage of imiglucerase, and a 56-year-old woman was switched from previous enzyme replacement therapy due to allergic reactions to intravenous infusions. Hematological disease parameters were stable in each patient on previous enzyme replacement therapy. Two patients continue to be treated with miglustat, having shown good tolerability and stable core disease parameters for approximately 4 years. One patient, who was also stable during 7 years of therapy, eventually discontinued miglustat as a precaution because he developed peripheral neuropathy of as yet unknown origin. Overall, our experience indicates that miglustat can be used as maintenance therapy for Gaucher disease type 1 after initial enzyme replacement therapy, but the selection of patients to whom this approach should be applied should be made after careful consideration of all disease parameters.
Auszug in der Originalsprache. Serratrice C, Swiader L, Serratrice J. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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Datensatz: gaucher:26100396
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: duchenne:2564818
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
We aimed to investigate the potential of 3D virtual planning of tracheostomy tube placement and 3D cannula design to prevent tracheostomy complications due to inadequate cannula position. 3D models of commercially available cannula were positioned in 3D models of the airway. In study (1), a cohort that underwent tracheostomy between 2013 and 2015 was selected (n = 26). The cannula was virtually placed in the airway in the pre-operative CT scan and its position was compared to the cannula position on post-operative CT scans. In study (2), a cohort with neuromuscular disease (n = 14) was analyzed. Virtual cannula placing was performed in CT scans and tested if problems could be anticipated. Finally (3), for a patient with Duchenne muscular dystrophy and complications of conventional tracheostomy cannula, a patient-specific cannula was 3D designed, fabricated, and placed. (1) The 3D planned and post-operative tracheostomy position differed significantly. (2) Three groups of patients were identified: (A) normal anatomy; (B) abnormal anatomy, commercially available cannula fits; and (C) abnormal anatomy, custom-made cannula, may be necessary. (3) The position of the custom-designed cannula was optimal and the trachea healed. Virtual planning of the tracheostomy did not correlate with actual cannula position. Identifying patients with abnormal airway anatomy in whom commercially available cannula cannot be optimally positioned is advantageous. Patient-specific cannula design based on 3D virtualization of the airway was beneficial in a patient with abnormal airway anatomy.
Auszug in der Originalsprache. de Kleijn BJ, Kraeima J, Wachters JE, van der Laan BFAM, Wedman J, Witjes MJH, Halmos GB. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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Datensatz: duchenne:29177627
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba