Medical treatment of recurrent ischaemic priapism: a review of current molecular therapeutics and a new clinical management paradigm

2021 ◽  
Vol 127 (5) ◽  
pp. 498-506
Author(s):  
Gregory A. Joice ◽  
James L. Liu ◽  
Arthur L. Burnett
Keyword(s):  
Medical Treatment ◽  
Clinical Management ◽  
Molecular Therapeutics

scholarly journals The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism

2011 ◽  
Vol 164 (5) ◽  
pp. 733-740 ◽  
Author(s):  
I Banerjee ◽  
M Skae ◽  
S E Flanagan ◽  
L Rigby ◽  
L Patel ◽  
...  
Keyword(s):  
Medical Treatment ◽  
Clinical Management ◽  
Ct Scanning ◽  
Favourable Outcome ◽  
Compound Heterozygous ◽  
Congenital Hyperinsulinism ◽  
Subtotal Pancreatectomy ◽  
Pathogenic Mutations ◽  
Positron Emission ◽  
Pet Ct

ObjectiveIn children with congenital hyperinsulinism (CHI), KATP channel genes (ABCC8 and KCNJ11) can be screened rapidly for potential pathogenic mutations. We aimed to assess the contribution of rapid genetic testing to the clinical management of CHI.DesignFollow-up observational study at two CHI referral hospitals.MethodsClinical outcomes such as subtotal pancreatectomy, 18F-Dopa positron emission tomography–computed tomography (PET–CT) scanning, stability on medical treatment and remission were assessed in a cohort of 101 children with CHI.ResultsIn total, 32 (32%) children had pathogenic mutations in KATP channel genes (27 in ABCC8 and five in KCNJ11), of which 11 (34%) were novel. In those negative at initial screening, other mutations (GLUD1, GCK, and HNF4A) were identified in three children. Those with homozygous/compound heterozygous ABCC8/KCNJ11 mutations were more likely to require a subtotal pancreatectomy CHI (7/10, 70%). Those with paternal heterozygous mutations were investigated with 18F-Dopa PET–CT scanning and 7/13 (54%) had a focal lesionectomy, whereas four (31%) required subtotal pancreatectomy for diffuse CHI. Those with maternal heterozygous mutations were most likely to achieve remission (5/5, 100%). In 66 with no identified mutation, 43 (65%) achieved remission, 22 (33%) were stable on medical treatment and only one child required a subtotal pancreatectomy.ConclusionsRapid genetic analysis is important in the management pathway of CHI; it provides aetiological confirmation of the diagnosis, indicates the likely need for a subtotal pancreatectomy and identifies those who require 18F-Dopa PET–CT scanning. In the absence of a mutation, reassurance of a favourable outcome can be given early in the course of CHI.

scholarly journals Medical treatment versus “Watch and Wait” in the clinical management of CE3b echinococcal cysts of the liver

2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Francesca Rinaldi ◽  
Annalisa De Silvestri ◽  
Francesca Tamarozzi ◽  
Federico Cattaneo ◽  
Raffaella Lissandrin ◽  
...  
Keyword(s):  
Medical Treatment ◽  
Clinical Management ◽  
Watch And Wait

Parents' Perception of Diagnostic Reports and Conferences

1983 ◽  
Vol 14 (2) ◽  
pp. 114-120 ◽  
Author(s):  
Betty U. Watson ◽  
Ronald W. Thompson
Keyword(s):  
Medical Treatment ◽  
Diagnostic Information ◽  
Learning Language ◽  
Speech Learning ◽  
Hearing Problems

The purpose of this study was to evaluate parents' reactions and understanding of diagnostic information from written reports and conferences in a clinic which provides multidisciplinary evaluations for children with speech, learning, language, and hearing problems. Previous studies and anecdotal reports suggested that many parents do not receive appropriate diagnostic information about their children. In the present study questionnaires were mailed to parents who had received reports of evaluations and most of whom had attended hour-long conferences covering the findings. Questionnaires were also sent to professionals who had received reports. Fifty-seven percent of the parents, and 63% of the professionals returned the questionnaires. Ninety percent of the parents indicated that they had understood the results as they were presented in the conference. Ninety-three percent of the professionals and 89% of the parents stated they understood the conclusions of the written reports .Further, 83% of the parents and 80% of the professionals reported that the findings had made a change in the child's educational or medical treatment. The percentage of parents who reported understanding the findings was greater than expected. The specific informing techniques used in this study are discussed.

Assessing the Use of Age-Equivalent Scores in Clinical Management

1992 ◽  
Vol 23 (1) ◽  
pp. 6-8 ◽  
Author(s):  
Carol W. Lawrence
Keyword(s):  
Case Management ◽  
Clinical Management ◽  
Management Decisions ◽  
Language Deficits

Speech-language evaluation reports from many institutions present age-equivalent scores as the evidence for speech-language deficits. Yet, the value and interpretation of this measurement criterion requires clinical scrutiny. This article reviews the concept and derivation of age-equivalent scores and presents arguments against their use in case management decisions.

Structural Aspects of Phonological Development

1988 ◽  
Vol 19 (1) ◽  
pp. 5-16 ◽  
Author(s):  
Karen E. Pollock ◽  
Richard G. Schwartz
Keyword(s):  
Clinical Management ◽  
Structural Complexity ◽  
Strong Preference ◽  
Phonological Development ◽  
Structural Position ◽  
Phonological Disorders ◽  
Syllabic Structure ◽  
The Relationship ◽  
Structural Aspects ◽  
Target Words

The relationship between syllabic structure and segmental development was examined longitudinally in a child with a severe phonological disorder. Six speech samples were collected over a 4-year period (3:5 to 7:3). Analyses revealed gradual increases in the complexity and diversity of the syllable structures produced, and positional preferences for sounds within these forms. With a strong preference for [d] and [n] at the beginning of syllables, other consonants appeared first at the end of syllables. Implications for clinical management of phonological disorders include the need to consider both structural position and structural complexity in assessing segmental skills and in choosing target words for intervention.

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