Clinical symptoms of six children with thiamin pyrophosphokinase deficiency

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
J Koch ◽  
JA Mayr ◽  
T Scheffner ◽  
C Makowski ◽  
F Zimmermann ◽  
...  
2011 ◽  
Vol 16 (2) ◽  
pp. 8-9
Author(s):  
Marjorie Eskay-Auerbach

Abstract The incidence of cervical and lumbar fusion surgery has increased in the past twenty years, and during follow-up some of these patients develop changes at the adjacent segment. Recognizing that adjacent segment degeneration and disease may occur in the future does not alter the rating for a cervical or lumbar fusion at the time the patient's condition is determined to be at maximum medical improvement (MMI). The term adjacent segment degeneration refers to the presence of radiographic findings of degenerative disc disease, including disc space narrowing, instability, and so on at the motion segment above or below a cervical or lumbar fusion. Adjacent segment disease refers to the development of new clinical symptoms that correspond to these changes on imaging. The biomechanics of adjacent segment degeneration have been studied, and, although the exact mechanism is uncertain, genetics may play a role. Findings associated with adjacent segment degeneration include degeneration of the facet joints with hypertrophy and thickening of the ligamentum flavum, disc space collapse, and translation—but the clinical significance of these radiographic degenerative changes remains unclear, particularly in light of the known presence of abnormal findings in asymptomatic patients. Evaluators should not rate an individual in anticipation of the development of changes at the level above a fusion, although such a development is a recognized possibility.


VASA ◽  
2005 ◽  
Vol 34 (3) ◽  
pp. 207-210 ◽  
Author(s):  
Sendi ◽  
Toia ◽  
Nussbaumer

Acquired renal arteriovenous fistula is a rare complication following a nephrectomy and its diagnosis may be made many years after the intervention. The closure of the fistula is advisable in most cases, since it represents a risk for heart failure and rupture of the vessel. There are an increasing number of publications describing different techniques of occlusion. The case of a 70-year-old woman with abdominal discomfort due to a large renal arteriovenous fistula, 45 years after nephrectomy, is presented and current literature is reviewed. Percutaneous embolization was performed by placing an occluding balloon through the draining vein followed by the release of nine coils through arterial access. One day after successful occlusion of the fistula, clinical symptoms disappeared.


Crisis ◽  
2020 ◽  
Vol 41 (4) ◽  
pp. 288-295 ◽  
Author(s):  
Nadia Bounoua ◽  
Jasmeet P. Hayes ◽  
Naomi Sadeh

Abstract. Background: Suicide among veterans has increased in recent years, making the identification of those at greatest risk for self-injurious behavior a high research priority. Aims: We investigated whether affective impulsivity and risky behaviors distinguished typologies of self-injurious thoughts and behaviors in a sample of trauma-exposed veterans. Method: A total of 95 trauma-exposed veterans (ages 21–55; 87% men) completed self-report measures of self-injurious thoughts and behaviors, impulsivity, and clinical symptoms. Results: A latent profile analysis produced three classes that differed in suicidal ideation, suicide attempts and nonsuicidal self-injury (NSSI): A low class that reported little to no self-injurious thoughts or behaviors; a self-injurious thoughts (ST) class that endorsed high levels of ideation but no self-harm behaviors; and a self-injurious thoughts and behaviors (STaB) class that reported ideation, suicide attempts and NSSI. Membership in the STaB class was associated with greater affective impulsivity, disinhibition, and distress/arousal than the other two classes. Limitations: Limitations include an overrepresentation of males in our sample, the cross-sectional nature of the data, and reliance on self-report measures. Conclusion: Findings point to affective impulsivity and risky behaviors as important characteristics of veterans who engage in self-injurious behaviors.


2018 ◽  
Vol 32 (1) ◽  
pp. 65-76 ◽  
Author(s):  
Gildas Brébion ◽  
Christian Stephan-Otto ◽  
Susana Ochoa ◽  
Lourdes Nieto ◽  
Montserrat Contel ◽  
...  

2011 ◽  
Vol 49 (05) ◽  
Author(s):  
E Makhajda ◽  
A Tiszai ◽  
Z Lénárt ◽  
L Bálint ◽  
L Tiszlavicz ◽  
...  

1999 ◽  
Vol 82 (12) ◽  
pp. 1639-1643 ◽  
Author(s):  
Karim Chabane Lounes ◽  
Claudine Soria ◽  
Antoine Valognes ◽  
Marie France Turchini ◽  
Jaap Koopman ◽  
...  

SummaryA new congenital dysfibrinogen, Fibrinogen Bastia, was discovered in a 20-year-old woman with no clinical symptoms. The plasma thrombin-clotting time was severely prolonged. The functional plasma fibrinogen concentration was low (0.2 mg/ml), whereas the immunological concentration was normal (2.9 mg/ml). Purified fibrinogen Bastia displayed a markedly prolonged thrombin-clotting time related to a delayed thrombin-induced fibrin polymerization. Both the thrombin-clotting time and the fibrin polymerization were partially corrected by the addition of calcium ions. The anomaly of fibrinogen Bastia was found to be located in the γ-chain since by SDS-PAGE performed according to the method of Laemmli two γ-chains were detected, one normal and one with an apparently lower molecular weight. Furthermore, analysis of plasmin degradation products demonstrated that calcium ions only partially protect fibrinogen Bastia γ-chain against plasmin digestion, suggesting that the anomaly is located in the C-terminal part of the γ-chain. Sequence analysis of PCR-amplified genomic DNA fragments of the propositus demonstrated a single base substitution (G → T) in the exon VIII of the γ chain gene, resulting in the amino acid substitution 318 Asp (GAC) → Tyr (TAC). The PCR clones were recloned and 50% of them contained the mutation, indicating that the patient was heterozygous. These data indicate that residue Asp 318 is important for normal fibrin polymerization and the protective effect of calcium ions against plasmin degradation of the C-terminal part of the γ-chain.


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