scholarly journals Practical implications of positive test for PROP1 mutation in hypopituitarism – case report

2018 ◽  
Vol 17 (2) ◽  
pp. 119-130
Author(s):  
Elżbieta Budzyńska ◽  
◽  
Iga Kapczuk ◽  
Magdalena Kędzierska ◽  
Iwona Beń-Skowronek ◽  
...  
2020 ◽  
Vol 8 (4) ◽  
pp. 847-853 ◽  
Author(s):  
Stefani Röseler ◽  
Friederike Leufgens ◽  
Hans F. Merk ◽  
Jens M. Baron ◽  
Silke Moll‐Slodowy ◽  
...  

Author(s):  
Oguz Eroglu ◽  
Yuksel Isik ◽  
Zeynep Dag ◽  
Ozlem Tulmac

2020 ◽  
Author(s):  
Ninad Mishra ◽  
Jon Duke ◽  
Saugat Karki ◽  
Myung Choi ◽  
Michael Riley ◽  
...  

BACKGROUND Public health reporting is the cornerstone of public health practice that inform the prevention and control strategies. Over the years, public health reporting has advanced to automated electronic methods but have been fraught with complex nuances in clinical and public health workflows, data and messaging standards, and efficient process and technology tools. There is a need to leverage advances made in the past to implement an architecture that facilitates timely and complete public health reporting with relevant case-related information that have previously not easily been available to the public health community. OBJECTIVE Positive test results of notifiable conditions are reported as electronic laboratory report (ELR) from laboratories. ELR is a reliable method for reporting cases to public health authorities but contains very limited data. We have designed Public Health Automated Case Event Reporting (PACER) platform that leverages existing ELR infrastructure. PACER is a Fast Health Interoperability Resources (FHIR) based system that queries the electronic health record (EHR) from where the laboratory test was requested, to extract expanded information about the case such as additional demographics, diagnoses, and treatment data. METHODS Incoming ELR to a public health department were used as the trigger for a FHIR-based query. Predetermined queries were translated to Clinical Quality Language (CQL) logics. Within the PACER environment, these CQL logical statements were managed and evaluated against the providers’ FHIR servers. These predetermined logics were filtered and only data relevant to that episode of the condition were extracted and sent to public health as an electronic case report (eCR). We evaluated this architecture by examining the completeness of additional information in the eCR such as patient demographics, medications, symptoms, and diagnoses. This additional information is crucial in understanding disease epidemiology but existing eCR and ELR architectures do not report them, therefore, we used the completeness of these data fields as the metrics to gauge extent of enriching notifiable condition case reports. RESULTS During an eight-week study period, we identified 117 positive test results of chlamydia. PACER successfully created an eCR for all 117 patients. PACER extracted demographics, medications, syPACER deployed in conjunction with ELRs can enhance public health case reporting with additional relevant data. The architecture is modular in design, allowing it to be used for any reportable condition, including evolving outbreaks. PACER allows for an enhanced and complete case report that contains relevant case information that helps us to better understand the epidemiology of the disease.mptoms, and diagnoses in 99%, 73%, 71%, and 65% of the cases respectively. CONCLUSIONS PACER deployed in conjunction with ELRs can enhance public health case reporting with additional relevant data. The architecture is modular in design, allowing it to be used for any reportable condition, including evolving outbreaks. PACER allows for an enhanced and complete case report that contains relevant case information that helps us to better understand the epidemiology of the disease.


2017 ◽  
Vol 4 (1) ◽  
pp. 59-62
Author(s):  
Kehinde Fasasi Monsudi ◽  
Abdulkabir Ayansiji Ayanniyi ◽  
Muhammed Danfulani ◽  
Hamza Aliyu Balarabe

Purpose: To report a case of traumatic enucleation and Colles’ fracture in a 70-year-old male farmer following a fall from a height. Design: A case report. Findings: Enucleated right eye and bilateral Colles’ fracture. Practical implications: The attending health care personnel should do a complete assessment of a patient with a history of fall from a height to avoid missing important bodily injuries. Fall from height is a cause of avoidable blindness. Originality: Rare original case of traumatic enucleation after a fall.


2021 ◽  
Vol 6 (3) ◽  
Author(s):  
Chaitanya Puranik

Background: Odontomas are the most common odontogenic tumors of the oral cavity. Although compound odontomas are common in the pediatric population, they are rare in the mandibular midline region during the primary dentition stage. Case Description: This article provides a rare case-report and literature review of a compound odontoma in the mandibular midline region during the primary dentition stage. A routine occlusal radiograph in an asymptomatic six-year-old patient demonstrated mixed, radiolucent-radiodense lesion apical to #N-#P (mandibular primary incisors) with intact lamina dura. Minor expansion and thinning of labial and lingual cortices were noted on cone beam computed tomographic (CBCT) images. This report discusses surgical management, histopathologic diagnosis, and 36-month clinical-radiographic follow-up of our case. Practical Implications: Compound odontomas are highly rare during the primary dentition stage in the mandibular midline (0.3%). Routine radiographs are vital for a timely diagnosis and treatment of these pathologies to prevent future orthodontic complications.


1989 ◽  
Vol 3 (4) ◽  
pp. 6-7
Author(s):  
Kathleen M. Nokes ◽  
Luis Cerra

2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.


2011 ◽  
Vol 21 (1) ◽  
pp. 11-21 ◽  
Author(s):  
Farzan Irani ◽  
Rodney Gabel

This case report describes the positive outcome of a therapeutic intervention that integrated an intensive, residential component with follow-up telepractice for a 21 year old male who stutters. This therapy utilized an eclectic approach to intensive therapy in conjunction with a 12-month follow-up via video telepractice. The results indicated that the client benefited from the program as demonstrated by a reduction in percent stuttered syllables, a reduction in stuttering severity, and a change in attitudes and feelings related to stuttering and speaking.


1970 ◽  
Vol 35 (2) ◽  
pp. 188-193 ◽  
Author(s):  
Maryann Peins ◽  
Bernard S. Lee ◽  
W. Edward McGough
Keyword(s):  

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