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BACKGROUND: With the growing demand on endoscopic resources, achieving optimal efficiency has assumed increasing importance. OBJECTIVE: This study adopted a time-and-motion approach to assess efficiency in the endoscopy unit of a large teaching hospital and to identify strategies to enhance efficiency. DESIGN: Consecutive endoscopic procedures were prospectively observed over the study period, and time intervals of the individual components of each procedure were recorded. SETTING: Tertiary-referral teaching hospital. PATIENTS: Consecutive patients undergoing endoscopy. INTERVENTION: Prospective recording of endoscopic data. MAIN OUTCOME MEASUREMENTS: Time intervals of the individual components of each procedure. RESULTS: Data were prospectively recorded for 400 procedures: 197 EGDs, 123 colonoscopies, 32 flexible sigmoidoscopies, and 48 double procedures (an EGD and a flexible sigmoidoscopy or colonoscopy). Several strategies to improve the efficiency quotient (EQ), the proportion of time that the endoscopist is engaged in performing the procedure or completing postprocedure paperwork, were identified: (1) employing personnel to obtain prior intravenous access and consent of patients increased the EQ by 10.8%, (2) using a 2-rooms-per-endoscopist model increased the EQ by 51.2%, (3) using personnel to both obtain consent and sedate the patient before an endoscopy increased the EQ by 30.9%, and (4) eliminating postprocedure paperwork for the endoscopist in conjunction with preconsent and sedation and a 2-room model increased the EQ by 63.3%. LIMITATIONS: Findings represent the experience of a single endoscopy unit in a tertiary-referral center and may not be generalizable to ambulatory surgical centers or other hospital-based endoscopy units. Factors other than procedure-time components may impact the efficiency of a 2-rooms-per-endoscopist model. CONCLUSIONS: A time-and-motion approach can be used to identify strategies to enhance endoscopic efficiency. The quality of any aspect of endoscopy performance should never be compromised in an attempt to enhance efficiency. [ABSTRACT FROM AUTHOR]

Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a decreased activity of tissue nonspecific alkaline phosphatase (TNSALP). As the onset and severity of HPP are heterogenous, it can be challenging to determine the pathogenicity of detected rare ALPL variants in symptomatic patients. We aimed to characterize patients with rare ALPL variants to propose which patients can be diagnosed with adult HPP. We included 72 patients with (1) clinical symptoms of adult HPP or positive family history and (2) low TNSALP activity and/or high pyridoxal 5'-phosphate (PLP) levels, who underwent ALPL gene sequencing. The patients were analyzed and divided into three groups depending on ALPL variant pathogenicity according to the classification of the American College of Medical Genetics and Genomics (ACMG). Reported pathogenic (n = 34 patients), rare (n = 17) and common (n = 21) ALPL variants only were found. Muscular complaints were the most frequent symptoms (> 80%), followed by bone affection (> 50%). Tooth involvement was significantly more common in patients with pathogenic or rare ALPL variants. Seven rare variants could be classified as likely pathogenic (ACMG class 4) of which five have not yet been described. Inconclusive genetic findings and less specific symptoms make diagnosis difficult in cases where adult HPP is not obvious. As not every pathogenic or rare ALPL variant leads to a manifestation of HPP, only patients with bone complications and at least one additional complication concerning teeth, muscle, central nervous and mental system, repeated low TNSALP activity and high PLP levels should be diagnosed as adult HPP if rare ALPL gene variants of ACMG class 4 or higher support the diagnosis.

Background: With increasing volumes of endoscopic procedures, endoscopists' workload has had to increase to meet this escalating demand. The aim of this study was to characterize the impact of endoscopist fatigue on quality of endoscopy performance by comparing outcomes based on chronological procedure order., Methods: Consecutive endoscopic procedures were prospectively observed. Quality indicators of colonoscopy (cecal intubation rate, lesion detection, withdrawal time, insertion time) and esophagogastroduodenoscopy (EGD) duration were compared among procedures based on their chronological sequence., Results: Colonoscopy completion rates declined with successive procedures; completion for 1st to 3rd procedures (90%) was significantly higher than for 4th and subsequent procedures (76%) (P = 0.03). Median insertion times lengthened; times for 1st to 4th procedures [8 min, interquartile range (IQR) 6-11 min] were shorter than for 5th and subsequent procedures (10 min, IQR 7-15 min) (P = 0.06). Lesion detection rates, withdrawal times, and EGD duration remained stable with procedure order., Conclusions: Colonoscopy cecal intubation rates appear to decline with successive procedures. There also appears to be a trend for insertion times to lengthen. Reassuringly, other quality indicators of colonoscopy (lesion detection and withdrawal time) and EGD duration do not appear to be impacted by repetitive procedures.