Arginosuccinate synthetase deficiency: good outcome despite severe neonatal hyperammonaemia

The combined pathology of intra-mural haematoma (IMH) and penetrating aortic ulcer (PAU) represents disease progression of the PAU with high risk for further progression to either rupture or pseudo-aneurysm formation, and hence surgical intervention should be offered once diagnosis is made regardless of the presentation. We present a 70-year-old fit lady with chronic type A IMH associated with multiple PAUs, diagnosed incidentally, the patient underwent urgent surgical repair with good outcome.

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Invasive Group A Streptococcal infections in children

Current Pediatric Reviews ◽

10.2174/1573396316666200704152246 ◽

2020 ◽

Vol 16 ◽

Author(s):

Molla Imaduddin Ahmed ◽

Rosalind V Saunders ◽

Srini Bandi

Keyword(s):

Early Diagnosis ◽

Management Practices ◽

Clinical Presentation ◽

Streptococcal Infections ◽

Invasive Group ◽

Children's Hospital ◽

Good Outcome ◽

Children’S Hospital ◽

Group A

: We reviewed the clinical presentation and management of children with Invasive group A streptococcal infections admitted to our tertiary Children’s Hospital in the last eight years. Our study highlighted the varied symptomatology and management practices in children with iGAS and showed that early diagnosis and prompt initiation of appropriate antibiotics for iGAS can help in resolution of symptoms and good outcome.

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Familial And Constitutional Moderate Bleeding Disorder Associated With Defective Platelet Cyclo-Oxygenase

10.1055/s-0038-1652663 ◽

1981 ◽

Author(s):

C Lecrubier ◽

F Fouque ◽

M Chignard ◽

M H Horellou ◽

J Conard ◽

...

Keyword(s):

Autosomal Dominant ◽

Atp Release ◽

Rabbit Aorta ◽

Total Radioactivity ◽

Bleeding Disorder ◽

Similar Extent ◽

Synthetase Deficiency ◽

Successive Generations ◽

Second Wave ◽

Rule Out

Three family members from two successive generations showed a moderate bleeding disorder. The bleeding times (Duke and Ivy-Borchgrevink) were both constantly prolonged. Platelet aggregation induced by ADP and adrenaline showed no second wave; collagen at low to moderate concentrations failed to aggregate and release ATP whereas higher amounts aggregated and released. Aggregation and release due to thrombin, ristocetin and synthetic epoxy derivatives (U 44069 and U 46619) were normal. Arachidonate (A.A.) was inactive and was not converted into thromboxane (TX) A2 activity evaluated on the rabbit aorta strip. The patient’s platelets did not respond to A.A. when PRP from an aspirin treated control was added. Platelet phospholipids (PL) were labelled by 14C - A.A. before stimulation by thrombin (T). Radioactivity of the PL of the propositus' platelets was affected with T to a similar extent as 5 laboratory controls, indicating that the phospholipase activity was not impaired. In contrast, no TXB2 was found: 0.9 p. cent as compared to 6 p. cent of total radioactivity in controls.Our data suggest a deficit in cyclo-oxygenase particularly since the levels of PGE2, PGF2a and PGD2 were within the limits of detection. These results seem to rule out the possibility of a TX-synthetase deficiency with excessive production of anti-aggregating PGs. This study suggests that transmission is autosomal dominant and confirms that cyclo-oxygenase is not needed for aggregation and ATP-release by high amounts of collagen.

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Adolescents’ experiences of brief psychosocial intervention for depression: An interpretative phenomenological analysis of good-outcome cases

Clinical Child Psychology and Psychiatry ◽

10.1177/1359104519857222 ◽

2019 ◽

Vol 25 (1) ◽

pp. 106-118

Author(s):

Darshita Dhanak ◽

Lisa Thackeray ◽

Bernadka Dubicka ◽

Raphael Kelvin ◽

Ian M Goodyer ◽

...

Keyword(s):

Psychosocial Intervention ◽

Interpretative Phenomenological Analysis ◽

Adolescent Depression ◽

Controlled Trial ◽

Clinical Effectiveness ◽

Phenomenological Analysis ◽

Good Treatment ◽

Good Outcome ◽

Novel Approach ◽

Good Treatment Response

Background: Brief psychosocial intervention (BPI) is a treatment for adolescent depression that has recently demonstrated clinical effectiveness in a controlled trial. The aim of this study is to explore experiences of adolescents with major depression receiving BPI treatment in the context of good treatment outcomes. Method: A subsample of five interviews from a larger study of adolescents’ experiences of BPI was purposively selected, focusing on good-outcome cases. Interviews were analysed using interpretative phenomenological analysis to provide a richer understanding of participants’ experiences of overcoming depression in the BPI group. Results: Four central themes were identified: ‘Being heard and feeling safe’, ‘Collaborative working enhancing therapy’, ‘Gaining a different perspective on one’s self and relationships’ and ‘A positive therapeutic relationship’. Conclusion: BPI is a novel approach with promising clinical effectiveness. Utilising adolescents’ experiences has revealed potential psychological mechanisms of good treatment response to BPI. Overall implications for clinical practice with depressed adolescents are discussed.

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Pay for performance of Estonian family doctors and impact of different practice- and patient-related characteristics on a good outcome: A quantitative assessment

Medicina ◽

10.1016/j.medici.2016.04.003 ◽

2016 ◽

Vol 52 (3) ◽

pp. 192-198

Author(s):

Eero Merilind ◽

Rauno Salupere ◽

Katrin Västra ◽

Ruth Kalda

Keyword(s):

Quantitative Assessment ◽

Pay For Performance ◽

Family Doctors ◽

Good Outcome

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Late Thrombectomy in Clinical Practice

Clinical Neuroradiology ◽

10.1007/s00062-021-01033-1 ◽

2021 ◽

Author(s):

Moriz Herzberg ◽

Korbinian Scherling ◽

Robert Stahl ◽

Steffen Tiedt ◽

Frank A. Wollenweber ◽

...

Keyword(s):

Clinical Practice ◽

Clinical Outcome ◽

Perfusion Imaging ◽

Time Window ◽

Ct Perfusion ◽

Large Trial ◽

Real World Data ◽

Baseline Trial ◽

Good Outcome ◽

Number Of Patients

Abstract Background and Purpose To provide real-world data on outcome and procedural factors of late thrombectomy patients. Methods We retrospectively analyzed patients from the multicenter German Stroke Registry. The primary endpoint was clinical outcome on the modified Rankin scale (mRS) at 3 months. Trial-eligible patients and the subgroups were compared to the ineligible group. Secondary analyses included multivariate logistic regression to identify predictors of good outcome (mRS ≤ 2). Results Of 1917 patients who underwent thrombectomy, 208 (11%) were treated within a time window ≥ 6–24 h and met the baseline trial criteria. Of these, 27 patients (13%) were eligible for DAWN and 39 (19%) for DEFUSE3 and 156 patients were not eligible for DAWN or DEFUSE3 (75%), mainly because there was no perfusion imaging (62%; n = 129). Good outcome was not significantly higher in trial-ineligible (27%) than in trial-eligible (20%) patients (p = 0.343). Patients with large trial-ineligible CT perfusion imaging (CTP) lesions had significantly more hemorrhagic complications (33%) as well as unfavorable outcomes. Conclusion In clinical practice, the high number of patients with a good clinical outcome after endovascular therapy ≥ 6–24 h as in DAWN/DEFUSE3 could not be achieved. Similar outcomes are seen in patients selected for EVT ≥ 6 h based on factors other than CTP. Patients triaged without CTP showed trends for shorter arrival to reperfusion times and higher rates of independence.

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Genomic Analysis of Cutibacterium acnes Strains Isolated from Prosthetic Joint Infections

Microorganisms ◽

10.3390/microorganisms9071500 ◽

2021 ◽

Vol 9 (7) ◽

pp. 1500

Author(s):

Llanos Salar-Vidal ◽

Yvonne Achermann ◽

John-Jairo Aguilera-Correa ◽

Anja Poehlein ◽

Jaime Esteban ◽

...

Keyword(s):

Normal Skin ◽

Genomic Analysis ◽

Healthy Skin ◽

Common Cause ◽

Good Outcome ◽

Joint Infections ◽

Prosthetic Joint ◽

Prosthetic Joint Infections ◽

Cutibacterium Acnes ◽

Clinical Conditions

Cutibacterium acnes is a common cause of prosthetic joint infections (PJIs). The C. acnes population can be divided into six main phylotypes (IA1, IA2, IB, IC, II and III) that are associated with different clinical conditions and normal skin. A single-locus sequence typing (SLST) scheme can distinguish ten main SLST types: A-E (all IA1), F (IA2), G (IC), H (IB), K (II), L (III). We genome-sequenced and compared 16 strains of C. acnes isolated from healthy skin (n = 4) and PJIs (n = 12), including six PJI cases with a good outcome (four shoulder PJIs, one hip PJI, one knee PJI) and six with infection relapse (three shoulder PJIs, three hip PJIs). The sequenced strains belonged to four different phylotypes (IA1, IA2, IB and II) and seven different SLST types. All five type IB strains (all SLST type H1) were PJI isolates (three hip PJIs, two shoulder PJIs), and four of these caused infection relapse (three hip PJIs, one shoulder PJI). Isolates from PJI cases with a good outcome belonged to three different phylotypes (IA, IB, II). Interestingly, four strains (three strains from PJI cases with good outcome and one strain from healthy skin) contained a linear plasmid; these strains belonged to different SLST types (A1, C1, F4, H1) and were isolated in three different hospitals. This study suggests that type IB strains have the potential to cause infection relapse, in particular regarding hip PJIs. Moreover, our study revealed that strains belonging to the same SLST type can differ in their accessory genome in different geographic locations, indicative of microevolution.

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