Dysostosis

This phase 2 trial tested sodium valproate, a drug used for seizures, in 41 children with Rubinstein-Taybi syndrome (RTS), a rare genetic condition causing intellectual disability. Participants aged 6 to 21 received either the drug or a placebo for one year. Researchers measured …

This study tested whether membranes made from a patient's own blood (L-PRF) can seal the skull base after sinus surgery as well as standard fibrin glues. 220 adults with sellar lesions were randomly assigned to receive either L-PRF or commercial sealants. The main goal was to com…

This study tested an experimental drug called E7090 in 63 people with advanced bile duct cancer that has a specific genetic change (FGFR2 fusion). Participants had already tried chemotherapy without success. The goal was to see if the drug could shrink tumors. Results help determ…

This study tested a new method to rebuild bone in the upper front jaw for dental implants. Researchers used custom-made donor bone blocks, designed with computer software, to support immediate implant placement. Twenty patients with bone loss from previous failed implants were tr…

This study tested a Turkish version of the Johns Hopkins In-Room Independence Scale, which measures a patient's ability to move, use the toilet, and think clearly while in their hospital room. Researchers worked with 100 adults who had conditions like stroke, Parkinson's, or ampu…

This study tested whether early osteopathic treatment in newborns with risk factors (like a preferred head turn or muscle tightness) could prevent positional skull deformities (flat head). 101 babies were randomly assigned to receive either osteopathic sessions plus standard advi…

This study tested whether a new prosthetic hand, the SoftHand Pro, helps people with below-elbow limb loss perform daily activities better than a commonly used hand, the i-Limb. Thirty-six adults who already use a myoelectric hand took part over 8 weeks. Researchers measured how …

This study tested a mobile app called SurgeryPal that teaches teens coping skills before and after major spine surgery. 433 teens aged 12-18 were randomly assigned to use the app or receive standard education. The goal was to see if the app could reduce pain and prevent pain from…

This study looked at how common muscle and posture problems are in physiotherapy students and whether a special physiotherapy program could help. 44 students with back pain and muscle tightness received treatments like trigger point release, stretching, and joint mobilization. Th…

This study looked at whether letting patients control their own sedation during arm surgery under regional anesthesia leads to higher satisfaction compared to having an anesthesiologist control it. 70 adults having upper limb orthopedic surgery were randomly assigned to either pa…

This study tested whether reformer pilates helps people recover better than standard physiotherapy after femur lengthening surgery. Thirty men who had the surgery for cosmetic reasons took part. Researchers measured muscle strength, joint movement, pain, and daily function to see…

This study tested whether a therapy called EMDR (eye movement desensitisation and reprocessing) could help people with functional neurological disorder (FND), a condition where the brain doesn't send signals properly, causing symptoms like seizures, shaking, or weakness. Fifty ad…

This study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…

This study translated the Generic Functional Index, a questionnaire that measures how well people can do daily activities, into Turkish. Researchers tested it with 200 adults who have muscle or joint problems to see if it is accurate and reliable. The goal is to give Turkish-spea…

This study tested a special MRI technique called magnetic resonance elastography (MRE) to see if it can detect scarring in transplanted kidneys. Researchers compared MRE results with traditional biopsy samples from 73 kidney transplant patients. The goal was to find a non-invasiv…

This study investigates whether changes in DNA methylation—a kind of chemical switch—might cause certain rare limb malformations that appear without a family history. Researchers will compare DNA samples from 40 people with Amelia (missing two or four limbs) or Femur Fibula Ulna …

This pilot study tested whether a single dose of an oral ketone supplement could increase blood flow and improve brain connectivity in 15 older adults with subjective or mild cognitive decline. Participants had one 2-hour session including MRI scans and cognitive tests. The goal …

This study looked at whether certain gene variations affect how well a transplanted kidney works over time. Researchers checked 80 kidney transplant recipients for specific gene markers and measured their kidney function for up to three years. The goal was to find clues that coul…

This study looked at how families are told their child has craniosynostosis, a condition where skull bones fuse too early. Researchers interviewed and surveyed 574 parents and children to understand the emotional impact and improve the diagnosis process. The goal is to make the a…

This completed study looked at 57 people with CURRARINO syndrome, a rare condition that can include a tumor near the tailbone. Researchers used yearly MRI scans and blood tests to track tumor growth and understand genetic links. The goal was to find out who is most at risk and wh…

This study tested whether specially trained physiotherapists can safely diagnose and treat non-urgent muscle and joint pain in the emergency room, compared to standard care from doctors. 102 patients with back, neck, or shoulder pain were randomly assigned to either a physiothera…

This study looked at 10 children born with a missing forearm who used a bionic Hero Arm for one year. Researchers measured how well the children could do everyday tasks and how satisfied they were with the device. The goal was to see if the prosthesis helped with activities like …

This study looked at whether a simple urine test could predict scarring in kidney transplants, instead of using a needle biopsy. Researchers measured certain genetic markers in urine cells from 300 kidney transplant recipients over the first year after transplant. The goal was to…

This completed study compared how well people with complex regional pain syndrome (CRPS), people with other muscle or bone pain, and healthy individuals can imagine movements. Researchers used a questionnaire called the MIQ-RS to measure motor imagery skills. The goal was to see …

This study surveyed 116 adults with chronic pain at a rehabilitation clinic to understand how their pain beliefs, spiritual well-being, and attitudes toward complementary and alternative medicine are related. Participants filled out several questionnaires about their pain, mood, …