Comprehensive and reliable classification system for primary diagnosis of cleft lip and palate

Due to the lack of a universally accepted classification system, we are aiming to introduce a modified comprehensive, precise and relative simple classification system for primary diagnosis of cleft lip and palate.

http://ift.tt/2okPggj

The ins and outs of molecular pathology reporting

Abstract

The raid evolution in molecular pathology resulting in an increasing complexity requires careful reporting. The need for standardisation is clearer than ever. While synoptic reporting was first used for reporting hereditary genetic diseases, it is becoming more frequent in pathology, especially molecular pathology reports too. The narrative approach is no longer feasible with the growing amount of essential data present on the report, although narrative components are still necessary for interpretation in molecular pathology. On the way towards standardisation of reports, guidelines can be a helpful tool. There are several guidelines that focus on reporting in the field of hereditary diseases, but it is not always feasible to extrapolate these to the reporting of somatic variants in molecular pathology. The rise of multi-gene testing causes challenges for the laboratories. In order to provide a continuous optimisation of the laboratory testing process, including reporting, external quality assessment is essential and has already proven to improve the quality of reports. In general, a clear and concise report for molecular pathology can be created by including elements deemed important by different guidelines, adapting the report to the process flows of the laboratory and integrating the report with the laboratory information management system and the patient record.

http://ift.tt/2n6ATLv

Internet-delivered, preoperative, preparation program (I-PPP): Development and examination of effectiveness

Limited evidence-based, interactive, Internet-delivered preoperative preparation programs for children and their parents exist. The purpose of this investigation was to develop and examine the effectiveness of the Internet-delivered, preoperative program (I-PPP) in alleviating prepoperative anxiety in children undergoing outpatient surgery. In Study 1, the I-PPP was developed and then evaluated by parent/child dyads and health care professionals. In Study 2, the effectiveness of I-PPP was examined.

http://ift.tt/2nCPXnR

Isotretinoin as a Possible Environmental Trigger to Autoimmunity in Genetically Susceptible Patients

Introduction. Isotretinoin is commonly used to treat cystic acne. Definitive mechanisms of action for isotretinoin are not known though despite many side effects having been documented. Various case reports have noted autoimmune diseases succeeding isotretinoin treatment. Case Report. A 16-year-old female presents with symptoms of tremors, lack of focus, sleeplessness, emotional liability, bulging eyes, loose stools, heat intolerance, and missed menstrual periods. Symptoms manifested shortly after the patient finished a course of oral isotretinoin treatment for acne. Physical exam showed resting tremors, bilateral proptosis, hyperactivity, and rapid speech. A diagnosis of Graves' Disease was made by correlating symptoms, physical exam findings, ultrasound, and positive family history of autoimmune thyroid disease. Conclusion. Emergence of autoimmune thyroid diseases depends upon genetic predisposition and environmental triggers. Mechanism of action for isotretinoin is not known but the drug may play a role in triggering autoimmunity in genetically susceptible individuals.

http://ift.tt/2np7QGA

HLA-A*31:01 and lamotrigine-induced severe cutaneous adverse drug reactions in a Korean population

Publication date: Available online 25 March 2017
Source:Annals of Allergy, Asthma & Immunology
Author(s): Byung-Keun Kim, Jae-Woo Jung, Tae-Bum Kim, Yoon-Seok Chang, Hae-Sim Park, Jangsup Moon, Soon-Tae Lee, Keun-Hwa Jung, Ki-Young Jung, Kon Chu, Sang Kun Lee, Hye-Ryun Kang, Heung-Woo Park




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Incidental metastatic mediastinal atypical carcinoid in a patient with parathyroid adenoma: a case report

Atypical carcinoid arising from the mediastinal tissue is a rare neuroendocrine tumor and an association with parathyroid adenoma is very unusual. We report an unusual case of atypical carcinoid of mediastinum...

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Spontaneous Iliopsoas Hematoma following Microvascular Free Tissue Transfer

Spontaneous hematoma within the iliopsoas muscle (SIH) is a rare complication most commonly seen in coagulopathic patients. Often, patients undergoing microvascular free tissue transfer are anticoagulated for anastomotic patency. Here we describe two cases of postoperative SIH following contralateral anterolateral thigh (ALT) free tissue transfer for reconstruction of oncologic head and neck defects. Both patients described hip pain after mobilization and had a corresponding acute blood loss anemia. Diagnosis of SIH was confirmed by CT and both patients were managed conservatively. Given that anticoagulation is a common practice following head and neck free tissue transfer, surgeons should be aware of this potential complication.

http://ift.tt/2nRYpQI