HYPERTROPHIC OSTEOARTHROPATHY IN A PATIENT WITH HETEROZYGOUS MUTATION IN THE SLCO2A1 GENE: A CASE REPORT

Hypertrophic osteoarthropathy (HOA) is a condition characterized by aberrant skin and osseous tissue proliferation in the distal extremities. Mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD) and the soluble carrier organic anion carrier family member 2A1 gene (SLCO2A1) were associated with primary HOA. Secondary HOA, which is also called as 'hypertrophic pulmonary osteoarthropathy' is responsible for 95-97% of cases. Herein, we present a 19-year-old female patient with primary HOA and heterozygous mutation in the SLCO2A1 gene

Factors influencing medical student attrition and their implications in a large multi-center randomized education trial

Participant attrition may be a significant threat to the generalizability of the results of educational research studies if participants who do not persist in a study differ from those who do in ways that can affect the experimental outcomes. A multi-center trial of the efficacy of different computer-based instructional strategies gave us the opportunity to observe institutional and student factors linked to attrition from a study and the ways in which they altered the participation profile. The data is from a randomized controlled trial conducted at seven US medical schools investigating the educational impact of different instructional designs for computer-based learning modules for surgical clerks. All students undertaking their surgical clerkships at the participating schools were invited participate and those that consented were asked to complete five study measures during their surgery clerkship. Variations in study attrition rates were explored by institution and by participants' self-regulation, self-efficacy, perception of task value, and mastery goal orientation measured on entry to the study. Of the 1,363 invited participants 995 (73 %) consented to participate and provided baseline data. There was a significant drop in the rate of participation at each of the five study milestones with 902 (94 %) completing at least one of two module post-test, 799 (61 %) both module post-tests, 539 (36 %) the mid-rotation evaluation and 252 (25 %) the final evaluation. Attrition varied between institutions on survival analysis (p < 0.001). Small but statistically significant differences in self-regulation (p = 0.01), self-efficacy (p = 0.02) and task value (p = 0.04) were observed but not in mastery or performance goal orientation measures (p = NS). Study attrition was correlated with lower achievement on the National Board of Medical Examiners subject exam. The results of education trials should be interpreted with the understanding that students who persist may be somewhat more self-regulated, self-efficacious and higher achievers than their peers who drop out and as such do not represent the class as a whole

Medical students as human subjects in educational research

Introduction: Special concerns often arise when medical students are themselves the subjects of education research. A recently completed large, multi-center randomized controlled trial of computer-assisted learning modules for surgical clerks provided the opportunity to explore the perceived level of risk of studies where medical students serve as human subjects by reporting on: 1) the response of Institutional Review Boards (IRBs) at seven institutions to the same study protocol; and 2) the thoughts and feelings of students across study sites about being research subjects. Methods: From July 2009 to August 2010, all third-year medical students at seven collaborating institutions were eligible to participate. Patterns of IRB review of the same protocol were compared. Participation burden was calculated in terms of the time spent interacting with the modules. Focus groups were conducted with medical students at each site. Transcripts were coded by three independent reviewers and analyzed using Atlas.ti. Results: The IRBs at the seven participating institutions granted full (n=1), expedited (n=4), or exempt (n=2) review of the WISE Trial protocol. 995 (73% of those eligible) consented to participate, and 207 (20%) of these students completed all outcome measures. The average time to complete the computer modules and associated measures was 175 min. Common themes in focus groups with participant students included the desire to contribute to medical education research, the absence of coercion to consent, and the low-risk nature of the research. Discussion: Our findings demonstrate that risk assessment and the extent of review utilized for medical education research vary among IRBs. Despite variability in the perception of risk implied by differing IRB requirements, students themselves felt education research was low risk and did not consider themselves to be vulnerable. The vast majority of eligible medical students were willing to participate as research subjects. Participants acknowledged the time demands of their participation and were readily able to withdraw when those burdens became unsustainable

Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

Aim:Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts homogentisic acid (HGA) into maleylacetoacetic acid in the tyrosine degradation pathway. The presence of HGA in urine, ochronosis (bluish-black pigmentation in connective tissues) and arthritis of the spine and the other large joints are the three major features of AKU. Nitisinone and a tyrosine-restricted diet are the treatment options. In this study, we evaluated the demographic and clinical characteristics and also the mutations of our AKU patients.Materials and Methods:This retrospective single centre study included 36 patients who were diagnosed as AKU between the years of 2002 and 2017 Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Metabolism and Nutrition.Results:Thirty six AKU patients were included (17 female, 19 male) in our study. The mean age of the patients was 9.3±13.4 years (3 months-54 years). The major complaints were darkening of the urine (100%), ochronosis (11.1%), arthralgia (16.7%) and arthritis (8.1%). Darkening of the urine was firstly recognized at the age of 8.89±16.9 months (1-84 months). Eighteen (86%) patients had homozygous and 3 (14%) patients had compound heterozygous mutations in the HGD gene.Conclusion:AKU was the first inherited metabolic disease defined. The three main features are; darkening of the urine at birth which is followed by ochronosis (blue-dark pigmentation) clinically visible in the ear and alae of the nose and finally a severe ochronotic arthropathy of the spine and large joints at around the age of 50 years. Here we report on the clinical and genetic features of our patients at various ages

Anatomical Versus Nonanatomical Resection of Colorectal Liver Metastases: Is There a Difference in Surgical and Oncological Outcome?

Background: The increased use of neoadjuvant chemotherapy and minimally invasive therapies for recurrence in patients with colorectal liver metastases (CLM) makes a surgical strategy

Usefulness of vessel-sealing devices combined with crush clamping method for hepatectomy: A retrospective cohort study

Background: Blood loss during resection of the hepatic parenchyma in hepatectomy can be minimized using vessel-sealing (VS) devices. Some sealing devices were retrospectively compared to evaluate the efficacy of each device for controlling blood loss, transection time and postoperative complications in hepatectomy as a cohort study. Methods: Between 2005 and September 2012, hepatectomy was underwent in 150 patients using one of three types of LigaSure™ (Dolphin Tip Laparoscopic Instrument, Precise or Small Jaw) or the Harmonic Focus or Ace ultrasonic dissecting sealer. Results were compared to crush-clamping alone as the control method by the historical study (n=81). Results: Irrespective of the vessel-sealing device used for underlying chronic hepatitis, blood loss, blood transfusion rate, operating time and transection time were significantly reduced in the VS group compared with controls (p<0.05). Rates of postoperative bile leakage and intra-abdominal abscess formation were significantly lower in the VS group than in controls (p<0.05). Comparing devices, LigaSure Small Jaw and Harmonic Focus showed lower blood loss, shorter transection time and reduced rates of post-hepatectomy complications, in turn resulting in shorter hospital stays (p<0.05). Tendencies toward uncontrolled ascites and bile leakage were only concern with the use of Harmonic Focus. Satisfactory surgical results were achieved using the sealing device for laparoscopic hepatectomy. Conclusions: The use of energy sealing devices improves surgical results and avoids hepatectomy-related complications. Adequate use of vessel sealers is necessary for safe and rapid completion of hepatic resection

Management of colorectal cancer presenting with synchronous liver metastases

Up to a fifth of patients with colorectal cancer (CRC) present with synchronous hepatic metastases. In patients with CRC who present without intestinal obstruction or perforation and in whom comprehensive whole-body imaging confirms the absence of extrahepatic disease, evidence indicates a state of equipoise between several different management pathways, none of which has demonstrated superiority. Neoadjuvant systemic chemotherapy is advocated by current guidelines, but must be integrated with surgical management in order to remove the primary tumour and liver metastatic burden. Surgery for CRC with synchronous liver metastases can take a number of forms: the 'classic' approach, involving initial colorectal resection, interval chemotherapy and liver resection as the final step; simultaneous removal of the liver and bowel tumours with neoadjuvant or adjuvant chemotherapy; or a 'liver-first' approach (before or after systemic chemotherapy) with removal of the colorectal tumour as the final procedure. In patients with rectal primary tumours, the liver-first approach can potentially avoid rectal surgery in patients with a complete response to chemoradiotherapy. We overview the importance of precise nomenclature, the influence of clinical presentation on treatment options, and the need for accurate, up-to-date surgical terminology, staging tests and contemporary management options in CRC and synchronous hepatic metastatic disease, with an emphasis on multidisciplinary care

Çocuk humerus suprakondiler kırıklarının cerrahi tedavisi ve sonuçları

TEZ715Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 1991.Kaynakça (s. 52-57) var.57 s. : res. ; 30 cm.