scholarly journals MEDICAL AND GENETIC CONSULTING IN THE CLINICAL PRACTICE OF AN ANDROLOGIST

Author(s):  
Людмила Турова ◽  
Андрій Курченко

There is a system of genetic consultation, which includes diagnostics, defining the type of heredity and prognosis for family. Genetic consultation must help in 8-10% of all families. The staff on MGC consists in clinical genetic, cytogenetic, pediatrician, gynaecologist and other specialists. The main task of genetic consultation is prevention of hereditary diseases.

2018 ◽  
Vol 20 (1) ◽  
pp. 190-194
Author(s):  
V Yu Kravtsov ◽  
A I Solovev ◽  
I A Ivanov

The analysis of legal base of genetic researches in clinical practice is carried out. Modern standards of medical care are analyzed. The list of the diseases and pathological states demanding performance of genetic researches is made. The list of the medical services connected with genetic researches is also made. It is shown, that genetic researches make 10% of the nomenclature of medical services. From them about 60% medical services provide diagnosis of somatic pathology, the others are directed to identification of nucleinic acids of causative agents of infectious and parasitic diseases. Genetic researches are carried out mainly at a stage of specialized and primary medical care. Genetic researches are included in20% of standards of medical care. Genetic researches are conducted concerning 15 classes of diseases. More often genetic researches are conducted for diagnosis of the latent infections, enzimopatiya, hereditary diseases of a metabolism, and also cancer. There are some problems of cytogenetic and molecular genetic diagnostics in hospitals. Genetic researches are complex and expensive. Interpretation of the received results is difficult. It is necessary to develop standards of genetic researches. It is necessary to improve legal base of genetic researches.


2020 ◽  
Vol 21 (1) ◽  
Author(s):  
P. Nordling ◽  
G. Priebe ◽  
C. Björkelund ◽  
G. Hensing

Abstract Background Although a main task in the sickness certification process, physicians’ clinical practice when assessing work capacity has not been thoroughly described. Increased knowledge on the matter is needed to better understand and support the certification process. In this review, we aimed to synthesise existing qualitative evidence to provide a clearer description of the assessment of work capacity as practiced by physicians. Method Seven electronic databases were searched systematically for qualitative studies examining what and how physicians do when they assess work capacity. Data was analysed and integrated using thematic synthesis. Results Twelve articles were included. Results show that physicians seek to form a knowledge base including understanding the condition, the patient and the patient’s workplace. They consider both medical and non-medical aspects to affect work capacity. To acquire and process the information they use various skills, methods and resources. Medical competence is an important basis, but not enough. Time, trust, intuition and reasoning are also used to assess the patient’s claims and to translate the findings into a final assessment. The depth and focus of the information seeking and processing vary depending on several factors. Conclusion The assessment of work capacity is a complex task where physicians rely on their non-medical skills to a higher degree than in ordinary clinical work. These skills are highly relevant but need to be complemented with access to appropriate resources such as understanding of the associations between health, work and social security, enough time in daily work for the assessment and ways to better understand the patient’s work place. Also, the notion of an “objective” evaluation is questioned, calling for a greater appreciation of the complexity of the assessment and the role of professional judgement.


2006 ◽  
Vol 134 (Suppl. 1) ◽  
pp. 78-83
Author(s):  
Jovan Dimitrijevic

This work describes the basic elements of pathology used in clinical practice. Pathology plays an important role in clinical and scientific work, but only a few areas of pathology will be covered. Although the contribution of oncological and surgical pathology to therapy is the most well known, the cases chosen here will involve infectious pathology, diseases of the kidney and the liver, autoimmune diseases, as well as organ transplantation. Especially important is the description of methods that enable more accurate morphological diagnoses, such as histochemistry, immunohistochemistry, immunofluorescence, and electronic microscopy. Previous experience and joint work with clinical doctors have enabled the definition of significant morphological elements as well as of essential methods of pathohistological diagnosis. Besides, as is often the case, although disease symptoms are difficult to discern and biochemical results do not show significant changes compared to normal values, the results of biopsy come as a surprise to clinical doctors. For example, in virus hepatitis B involving socalled asymptomatic HBsAg carriers, we discovered every morphological form of hepatitis, from minimal lesions to chronic, persistent, and active hepatitis. With hepatitis C, certain morphological lesions point to the etiopathogenesis of this disease and thus help to confirm the diagnosis and to instigate therapy on time. Another significant experience involves kidney biopsies in cases when clinical findings are asymptomatic. Often, in such cases, morphological findings point to glomerulonephritis and glomerulopathy at different stages. Timely and subtle morphological diagnostics offer a more precise explanation for the pathological injury of tissues than other diagnostic methods. In this way, by adopting new methods, the work of pathologists is included more and more in everyday clinical practice. The inclusion of pathologists in a transplantation team makes sure a proper selection of the organ for transplantation is carried out and ensures a reliable evaluation of the condition of the transplanted organ, enabling appropriate therapy. Autoimmune, hereditary diseases are almost impossible to recognise unless a biopsy is performed as in the examples given. In this work, the 30-year-long results of the cooperation between clinical doctors and pathologists are presented and compared with similar results from modern literature, together with numerous examples that represent significant experiences and achievements of our medicine.


2020 ◽  
Vol 48 (5) ◽  
pp. 2295-2305
Author(s):  
Jiawei Zhang ◽  
Dandan Li ◽  
Rui Zhang ◽  
Peng Gao ◽  
Rongxue Peng ◽  
...  

The role of miR-21 in the pathogenesis of various liver diseases, together with the possibility of detecting microRNA in the circulation, makes miR-21 a potential biomarker for noninvasive detection. In this review, we summarize the potential utility of extracellular miR-21 in the clinical management of hepatic disease patients and compared it with the current clinical practice. MiR-21 shows screening and prognostic value for liver cancer. In liver cirrhosis, miR-21 may serve as a biomarker for the differentiating diagnosis and prognosis. MiR-21 is also a potential biomarker for the severity of hepatitis. We elucidate the disease condition under which miR-21 testing can reach the expected performance. Though miR-21 is a key regulator of liver diseases, microRNAs coordinate with each other in the complex regulatory network. As a result, the performance of miR-21 is better when combined with other microRNAs or classical biomarkers under certain clinical circumstances.


2019 ◽  
Vol 28 (4) ◽  
pp. 877-894
Author(s):  
Nur Azyani Amri ◽  
Tian Kar Quar ◽  
Foong Yen Chong

Purpose This study examined the current pediatric amplification practice with an emphasis on hearing aid verification using probe microphone measurement (PMM), among audiologists in Klang Valley, Malaysia. Frequency of practice, access to PMM system, practiced protocols, barriers, and perception toward the benefits of PMM were identified through a survey. Method A questionnaire was distributed to and filled in by the audiologists who provided pediatric amplification service in Klang Valley, Malaysia. One hundred eight ( N = 108) audiologists, composed of 90.3% women and 9.7% men (age range: 23–48 years), participated in the survey. Results PMM was not a clinical routine practiced by a majority of the audiologists, despite its recognition as the best clinical practice that should be incorporated into protocols for fitting hearing aids in children. Variations in practice existed warranting further steps to improve the current practice for children with hearing impairment. The lack of access to PMM equipment was 1 major barrier for the audiologists to practice real-ear verification. Practitioners' characteristics such as time constraints, low confidence, and knowledge levels were also identified as barriers that impede the uptake of the evidence-based practice. Conclusions The implementation of PMM in clinical practice remains a challenge to the audiology profession. A knowledge-transfer approach that takes into consideration the barriers and involves effective collaboration or engagement between the knowledge providers and potential stakeholders is required to promote the clinical application of evidence-based best practice.


2019 ◽  
Vol 4 (2) ◽  
pp. 322-324
Author(s):  
Thomas F. Burke

Purpose The purpose of this article was to describe a model for “hybrid speech telecoaching” developed for a Fortune 100 organization and offer a “thought starter” on how clinicians might think of applying these corporate strategies within future clinical practice. Conclusion The author contends in this article that corporate telecommunications and best practices gleaned from software development engineering teams can lend credibility to e-mail, messaging apps, phone calls, or other emerging technology as viable means of hybrid telepractice delivery models and offer ideas about the future of more scalable speech-language pathology services.


2020 ◽  
Vol 29 (2) ◽  
pp. 688-704
Author(s):  
Katrina Fulcher-Rood ◽  
Anny Castilla-Earls ◽  
Jeff Higginbotham

Purpose The current investigation is a follow-up from a previous study examining child language diagnostic decision making in school-based speech-language pathologists (SLPs). The purpose of this study was to examine the SLPs' perspectives regarding the use of evidence-based practice (EBP) in their clinical work. Method Semistructured phone interviews were conducted with 25 school-based SLPs who previously participated in an earlier study by Fulcher-Rood et al. 2018). SLPs were asked questions regarding their definition of EBP, the value of research evidence, contexts in which they implement scientific literature in clinical practice, and the barriers to implementing EBP. Results SLPs' definitions of EBP differed from current definitions, in that SLPs only included the use of research findings. SLPs seem to discuss EBP as it relates to treatment and not assessment. Reported barriers to EBP implementation were insufficient time, limited funding, and restrictions from their employment setting. SLPs found it difficult to translate research findings to clinical practice. SLPs implemented external research evidence when they did not have enough clinical expertise regarding a specific client or when they needed scientific evidence to support a strategy they used. Conclusions SLPs appear to use EBP for specific reasons and not for every clinical decision they make. In addition, SLPs rely on EBP for treatment decisions and not for assessment decisions. Educational systems potentially present other challenges that need to be considered for EBP implementation. Considerations for implementation science and the research-to-practice gap are discussed.


2014 ◽  
Vol 23 (2) ◽  
pp. 65-74 ◽  
Author(s):  
Gail Van Tatenhove

Language sample analysis is considered one of the best methods of evaluating expressive language production in speaking children. However, the practice of language sample collection and analysis is complicated for speech-language pathologists working with children who use augmentative and alternative communication (AAC) devices. This article identifies six issues regarding use of language sample collection and analysis in clinical practice with children who use AAC devices. The purpose of this article is to encourage speech-language pathologists practicing in the area of AAC to utilize language sample collection and analysis as part of ongoing AAC assessment.


2020 ◽  
Vol 5 (4) ◽  
pp. 1006-1010
Author(s):  
Jennifer Raminick ◽  
Hema Desai

Purpose Infants hospitalized for an acute respiratory illness often require the use of noninvasive respiratory support during the initial stage to improve their breathing. High flow oxygen therapy (HFOT) is becoming a more popular means of noninvasive respiratory support, often used to treat respiratory syncytial virus/bronchiolitis. These infants present with tachypnea and coughing, resulting in difficulties in coordinating sucking and swallowing. However, they are often allowed to feed orally despite having high respiratory rate, increased work of breathing and on HFOT, placing them at risk for aspiration. Feeding therapists who work with these infants have raised concerns that HFOT creates an additional risk factor for swallowing dysfunction, especially with infants who have compromised airways or other comorbidities. There is emerging literature concluding changes in pharyngeal pressures with HFOT, as well as aspiration in preterm neonates who are on nasal continuous positive airway pressure. However, there is no existing research exploring the effect of HFOT on swallowing in infants with acute respiratory illness. This discussion will present findings from literature on HFOT, oral feeding in the acutely ill infant population, and present clinical practice guidelines for safe feeding during critical care admission for acute respiratory illness. Conclusion Guidelines for safety of oral feeds for infants with acute respiratory illness on HFOT do not exist. However, providers and parents continue to want to provide oral feeds despite clinical signs of respiratory distress and coughing. To address this challenge, we initiated a process change to use clinical bedside evaluation and a “cross-systems approach” to provide recommendations for safer oral feeds while on HFOT as the infant is recovering from illness. Use of standardized feeding evaluation and protocol have improved consistency of practice within our department. However, further research is still necessary to develop clinical practice guidelines for safe oral feeding for infants on HFOT.


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