Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X).

The contiguous gene deletion syndrome of congenital adrenal hyperplasia and Ehlers-Danlos syndrome, named CAH-X, is a rare entity that occurs because of a deletion of a chromosomal area containing 2 neighboring genes, TNXB and CYP21A. Here, we describe a patient from a consanguineous family in which coincidentally MEN-1 syndrome is associated with CAH-X, causing particular challenges explaining the phenotypic features of the patient. A 33-year-old man with salt-wasting congenital adrenal hyperplasia and classic-like Ehlers-Danlos syndrome presented with an adrenal crisis with a history of recurrent hypoglycemia, abdominal pain, and vomiting. He was found to have primary hyperparathyroidism, hyperprolactinemia, and pancreatic neuroendocrine tumors, as well as primary hypogonadism, large adrenal myelolipomas, and low bone mineral density. A bladder diverticulum was incidentally found. Genetic analysis revealed a heterozygous previously well-described MEN1 mutation (c.784-9G > A), a homozygous complete deletion of CYP21A2 (c.1-?_1488+? del), as well as a large deletion of the neighboring TNXB gene (c.11381-?_11524+?). The deletion includes the complete CYP21A2 gene and exons 35 through 44 of the TNXB gene. CGH array found 12% homozygosity over the whole genome. This rare case illustrates a complex clinical scenario with some initial diagnostic challenges.

Establishing an Anatomic Pathology Laboratory at Cleveland Clinic Abu Dhabi.

CONTEXT: - The Department of Anatomic Pathology is a division of the Pathology & Laboratory Medicine Institute at Cleveland Clinic Abu Dhabi. The hospital offers the same model of care as its US-based counterpart the Cleveland Clinic, established in 1921 in Cleveland, Ohio. Pathology services at Cleveland Clinic are internationally acclaimed: the endeavor for Cleveland Clinic Abu Dhabi was to create a parallel facility, with the same standards in a greenfield start-up environment. OBJECTIVE: - To narrate how we addressed challenges customary in any laboratory start-up and issues distinctive to our setting with the aim to provide a model for others involved in a similar undertaking. DATA SOURCES: - All information in this article is based on published literature obtained by search on internet-based search engines, Clinical and Laboratory Standards Institute, and the authors' firsthand experience. CONCLUSIONS: - Key considerations in establishing an anatomic pathology laboratory are careful planning and design, adherence to local and international regulatory standards, selection of equipment and supplies, appropriate staffing, development of a laboratory information system, and sound test validation. In addition to meeting our clinical needs, alliance with the US Cleveland Clinic had an integral role in establishing our laboratory and regional reputation.

Establishing a Clinical Laboratory in a Tertiary/Quaternary Care Greenfield Hospital in the Middle East: Recounting the Cleveland Clinic Abu Dhabi Experience.

CONTEXT: - This review chronicles the establishment of a clinical laboratory in Cleveland Clinic Abu Dhabi, a greenfield tertiary/quaternary care hospital in the United Arab Emirates. It discusses the challenges faced, solutions sought, and lessons learned and shares insights and pitfalls that may be encountered in such an undertaking. OBJECTIVES: - To share our experience in building a clinical laboratory in a start-up, multispecialty hospital and how we provided support and managed people, processes, and technology for building and making operational the Cleveland Clinic Abu Dhabi. DATA SOURCES: - The Medline (PubMed, National Center for Biotechnology Information, Bethesda, Maryland) database was used to review this topic as well as other journals, books, and Google (Mountain View, California) search engine. CONCLUSIONS: - To deliver on the promise of quality healthcare in a culturally appropriate setting close to home, Cleveland Clinic Abu Dhabi proved to be an unprecedented and ambitious project, jointly carried out by Mubadala Investment Corporation and the Cleveland Clinic Foundation. Cognizant of the scale of this task, hospital leadership engaged closely with staff and stakeholders through motivational techniques and effective communication. Excellent project planning and execution of complex tasks were required for initiation of services. Establishing the clinical laboratory served as an instructive model in fostering multidisciplinary teamwork by highlighting ways to manage operational roadblocks and opportunities in the planning, commissioning, and activation phases. Throughout the activation process, all efforts were directed to create a patient-safety culture within an intentional-learning organization.

Fast Track to Accreditation: An Implementation Review of College of American Pathologists and International Organization for Standardization 15189 Accreditation.

CONTEXT: - This review examines challenges and opportunities in preparing laboratories in a startup phase for accreditation by both the College of American Pathologists (CAP) and International Organization for Standardization (ISO) 15189 in an international setting as it relates to our experience at Cleveland Clinic Abu Dhabi Laboratory. It also discusses some of the strategies used in executing those projects and the added advantages in pursuing both types of accreditations. OBJECTIVES: - To share our experience with CAP and ISO 15189 accreditations in a startup international operation in relation to the challenges encountered and implementation strategy success factors. DATA SOURCES: - MEDLINE (PubMed) database was used to review this topic as well as peer-reviewed articles and World Health Organization publications on the topic. CONCLUSIONS: - Accreditation is a perfect means toward building quality medical laboratories in a diverse workforce environment and improving patient safety. Further, it establishes a strong foundation on which any new operation can build a sustainable quality improvement culture. Accreditations by CAP and/or ISO are among the most reputable and well-established accreditation systems that clinical laboratories could aim for. As a result of both accreditations offering synergistic and complementing features, we recommend that any laboratory seeking excellence in quality and performance should consider exploring both. Key elements to success include having dedicated project management and change management support while preparing for accreditation. Laboratories seeking accreditation in early operational stages may face a number of challenges; however, significant opportunities will also be present to optimize various operational components from the beginning.

The value of early intervention and a multidisciplinary approach in the management of necrotizing fasciitis of the neck and anterior mediastinum of odontogenic origin.

Necrotizing fasciitis (NF) is a serious clinical condition, which, if diagnosed late, invariably leads to a fatal outcome. A high index of suspicion of the presenting clinical signs and symptoms, supported by knowledge of the clinicopathologic processes that underlie its aggressive nature, should prompt early surgical intervention. Ultimately, the success of treatment requires a robust clinical pathway in which all members of the health care team are aligned by their skill sets and competencies to manage NF. This report describes the management of a case of a young man with aggressive NF of odontogenic origin affecting the neck and anterior mediastinum. A multidisciplinary approach brought about early recognition of the disease and surgical intervention, the use of frozen section biopsies to determine the extent of fascial spread, and aggressive debridement of the affected tissue. Teamwork, critical thinking, and situational awareness ensured that the patient received optimum care in a timely manner. The psychological, clinical, radiologic, pathologic, and microbiological aspects of the patient's care are presented with a literature review.