Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.

Background: Lipoyl transferase 2 is involved in the biosynthesis of lipoate. Lipoate is the cofactor for the glycine cleavage system and four dehydrogenase enzymes. Biallelic variants in LIPT2 causing severe neonatal encephalopathy was first described in 2017.

Analysis of root causes of problems affecting the quality of hospital administrative data: A systematic review and Ishikawa diagram.

Introduction: Administrative hospital databases represent an important tool for hospital financing in many national health systems and are also an important data source for clinical, epidemiological and health services research. Therefore, the data quality of such databases is of utmost importance. This paper aims to present a systematic review of root causes of data quality problems affecting administrative hospital data, creating a catalogue of potential issues for data quality analysts to explore.

Post-transplant lymphoproliferative disorders in a cohort of adult patients with a liver transplant from a reference hospital in Bogotá, Colombia.

Introduction: The post-transplant lymphoproliferative disorders (PTLD) are characterized by an uncontrolled pathological lymphoid proliferation as a consequence of transplant immunosuppression therapy. Objective: To characterize the clinical and pathological characteristics of PTLD in a cohort of adult patients with liver transplant during a 15 year period at the Hospital Universitario Fundación Santa Fe de Bogota. Materials and methods: We conducted an observational retrospective study by searching for the PTLD cases diagnosed during the study period in the databases of the Liver Transplantation Unit and the Pathology Department.

Problems and Barriers during the Process of Clinical Coding: a Focus Group Study of Coders' Perceptions.

Coded data are the basis of information systems in all countries that rely on Diagnosis Related Groups in order to reimburse/finance hospitals, including both administrative and clinical data. To identify the problems and barriers that affect the quality of the coded data is paramount to improve data quality as well as to enhance its usability and outcomes. This study aims to explore problems and possible solutions associated with the clinical coding process.

The state of health in the European Union (EU-28) in 2017: an analysis of the burden of diseases and injuries.

Background: The Global Burden of Disease study has generated a wealth of data on death and disability in Europe. At a time of change for the European Union and European Region of WHO, with a new Health Commissioner and Regional Director, respectively, a review of health trends can contribute to identify outstanding needs and gaps. This paper reports a summary of the burden of disease in the European Union (EU) in 2017 (compared with 2007).

Health records as the basis of clinical coding: Is the quality adequate? A qualitative study of medical coders' perceptions.

Background: Health records are the basis of clinical coding. In Portugal, relevant diagnoses and procedures are abstracted and categorised using an internationally accepted classification system and the resulting codes, together with the administrative data, are then grouped into diagnosis-related groups (DRGs). Hospital reimbursement is partially calculated from the DRGs.

A 17-year-old male with a Small Bowel Neuroendocrine Tumor: flushing differential diagnosis.

Background: Neuroendocrine tumors (NETs) are heterogeneous neoplasms that originate from cells with a secretory function. Small bowel NETs (SB-NETs) are related to serotonin hypersecretion which causes: flushing, diarrhea, abdominal pain, bronchoconstriction and heart involvement, also known as carcinoid syndrome (CS). CS can be confused with an allergic reaction and thus should be considered as a differential diagnosis in the allergy consult.

Pediatric liver transplantation in Latin America: Where do we stand?

LT started in LA in 1968, and pediatric LT records are available starting in the 1990s. Currently, eight countries perform pediatric LT in LA. Registries by national organizations fail to report robust data on pediatric LT.

Hepatocellular carcinoma with both fibrolamellar and classical components: an unusual morphological pattern.

Fibrolamellar carcinoma (FLC) is an uncommon form of primary liver malignancy with unique clinical, histological, and biological characteristics. It is usually seen in young adults without underlying liver disease. Histologically, it shows large cells with abundant eosinophilic cytoplasm, large vesicular nuclei, prominent nucleoli, and lamellar type fibrosis.

Necrotizing encephalitis caused by disseminated Aspergillus infection after orthotopic liver transplantation.

Liver transplantation is the only available treatment for some patients with end-stage liver disease. Despite reduction in mortality rates due to advances related to surgical techniques, intensive medical management and immunosuppressive therapy, invasive fungal infections remain a serious complication in orthotopic liver transplantation. We report the case of an 18-year-old male diagnosed with autoimmune cirrhosis in 2009 who was assessed and listed for liver transplantation for massive variceal hemorrhage.

Rational adaptation under task and processing constraints: implications for testing theories of cognition and action.

The authors assume that individuals adapt rationally to a utility function given constraints imposed by their cognitive architecture and the local task environment. This assumption underlies a new approach to modeling and understanding cognition-cognitively bounded rational analysis-that sharpens the predictive acuity of general, integrated theories of cognition and action. Such theories provide the necessary computational means to explain the flexible nature of human behavior but in doing so introduce extreme degrees of freedom in accounting for data.

Colorectal cancer in patients with inflammatory bowel disease after liver transplantation for primary sclerosing cholangitis.

Background: Patients with primary sclerosing cholangitis (PSC) and inflammatory bowel disease (IBD) may have an increased risk of developing colorectal cancer (CRC) after liver transplantation (LT). We evaluated our patients with PSC after LT to identify risk factors for CRC and its impact on survival.

Patients And Methods: A total of 152 patients (108 men, 100 with IBD) with PSC who underwent 173 LTs between 1986 and May 2000 were analyzed in three groups: (1) PSC without IBD (n=52); (2) PSC with colectomy (pre-LT and at LT) (n=17, colectomy pre-LT in 13 and simultaneous colectomy at LT in four); and (3) PSC with IBD and an intact colon (n=83).

Risk factors for recurrence of primary sclerosing cholangitis of liver allograft.

Primary sclerosing cholangitis (PSC) is a disease of unknown cause that effects the biliary tree and is closely associated with inflammatory bowel disease. We did a retrospective analysis of the risk factors associated with recurrence of PSC in an allograft after liver transplantation. Recurrence of disease, assessed by liver histology or imaging the biliary tree, occurred in 56 of 152 patients (37%) at a median of 36 months (range 1.

Outcome of liver transplantation for patients with pulmonary hypertension.

It is generally believed that pulmonary hypertension (PHT) adversely affects outcome after liver transplantation (LT). Most transplant units consider severe PHT to be an absolute contraindication to LT. We examined the outcome of 145 patients who underwent LT between 1997 and 1999.

Invasive gastrointestinal zygomycosis in a liver transplant recipient: case report.

Background: Gastric zygomycosis is a rare but potentially lethal complication in transplant patients. Forty-two cases of gastric mucormycosis have been described in the literature, with a mortality of 98%.

Methods: We report of a case of gastric mucormycosis in a 45-year-old male undergoing liver transplantation for alcohol-induced cirrhosis.