No abstract

Context X-linked hypophosphatemia (XLH) is a rare and progressive metabolic phosphate-wasting disorder characterized with lifelong musculoskeletal comorbidities. Despite significant physical disability, there are currently no disease-specific PT recommendations for XLH designed to improve engagement and confidence in performing activities of daily living (ADLs). Objective The objective of this patient-centered study was to develop an evidence-based PT program to address gaps in the management of adult XLH without imposing unintended harm. Methods Creation of the program was informed by a prior controlled clinical study to evaluate the physical and functional impact of XLH in adulthood, and guided by the physical presentation of subjects, subjective data and patient goals acquired at intake and by performance on multiple active ROM movements from the standing position. A weekly standardized interview process was used to assess progression of physical and functional abilities, gains and concerns, and to obtain timely feedback to inform future exercise modifications. Outcomes were evaluated using validated functional tools and subjective data obtained throughout the study. Results A remote 12-week PT program was created based on collected data. Open and closed kinetic-chain exercises were developed and implemented. Functional improvements were documented, and weekly surveys indicated improved abilities and confidence to engage in ADLs. Minimal improvements were observed in active upper and lower extremity ROM, reflective of significant bony restrictions characteristic of XLH. Conclusions This study represents the first disease-specific PT recommendations for XLH to mitigate the unique physical challenges of the adult disorder that can be modified to adapt to the current progression status of the adult disorder.

A 54-year-old-woman presented to the emergency department with worsening bilateral shoulder pain six days after trigger point injections in the bilateral supraclavicular areas for chronic pain. A computed tomography scan of the neck revealed bilateral irregular rim enhancing fluid collections. Image-guided percutaneous drainage resulted in marked improvement and near complete resolution by 17 days post-drainage. This case demonstrates the need for early detection of soft-tissue infection and abscess formation related to interventional pain procedures to avoid potentially life-threatening complications, such as Staphylococcus aureus bacteremia.

X-linked hypophosphatemia (XLH) arises due to inactivating mutations of the PHEX gene resulting in elevated circulating levels of the hormone FGF23, producing phosphaturia and impaired intestinal phosphate absorption. XLH is a lifelong metabolic disease with musculoskeletal comorbidities that dominate the adult clinical picture, and are resistant to standard therapies. We have previously reported the physical and functional impact of the adult disorder (J Clin Endocrinol Metab. 2020 Apr 1;105(4)). Bilateral and diffuse enthesophytes, degenerative arthritis and osteophytes were reported at the spine and synovial joints across subjects. Passive range of motion (ROM) was decreased at the spine, hips, knees, and ankles compared to controls. Gait analysis, relative to controls, revealed increased step width, markedly increased lateral trunk sway, and physical restriction at the hip, knees and ankle joints that translated into limitations through the gait cycle. These studies have been translated into an evidence-based physical therapy (PT) intervention study to address these major physical and functional comorbidities. Participants were enrolled in a remote 12-week PT program consisting of balance exercises and basic stretches with/without resistance. Subjects were evaluated at baseline and at every 4-weeks to assess ROM, gait, and functional ability. Several validated tools were employed to assess overall function: Berg Balance Scale, the Timed Up and Go (TUG) Test, and the Five Times Sit to Stand Test (5XSST). Subjective questionnaires, including the Lower Extremity Functional Scale (LEFS) and Activities-Specific Balance Confidence (ABC) Scale, were administered along with a weekly survey. At the conclusion of the study, minimal to modest improvements were seen in active ROM for the upper and lower extremity which reflect the significant bony restriction caused by XLH. However, improvements were seen in functional measures including the Berg Balance Scale, TUG, 5XSST, LEFS, and ABC. Weekly surveys indicated that participants improved their ability to balance, perform activities of daily living (ADLs), walk, and bend down to reach the ground. Results from this study will be applied to the creation of an evidence-based PT program to maintain functional capacity and improved ability to perform ADLs across the lifespan.

Introduction Diverticular perforation due to foreign body ingestion is an uncommon but important cause of gastrointestinal tract injury. The aim of this study is to discuss relevant findings seen in diverticulitis caused by foreign bodies and its treatment. Case presentation In this report, we present a case of a 30-year-old woman who presented to the emergency department with two days of severe abdominal pain and diarrhea. Computed tomography of the patient's abdomen and pelvis revealed micro-perforations of the sigmoid colon with pneumoperitoneum and an intraluminal foreign body. She subsequently underwent an exploratory laparotomy with sigmoid resection and end-to-end anastomosis due to acute diverticulitis complicated by feculent peritonitis. Gross examination of the excised specimen revealed two large perforations and an intraluminal chicken bone. After a six-day hospitalization, the patient was discharged with an excellent prognosis. Discussion and conclusion Prompt radiological evaluation and classification of the degree of diverticulitis using the Hinchey classification system in this patient helped guide definitive treatment. Usage of this classification scheme in foreign body diverticulitis is valuable in determining whether a surgical or non-surgical approach is necessary.