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This study looked at thinking and learning abilities in 96 people with Bardet-Biedl Syndrome (BBS) by reviewing their past test results. The researchers wanted to better understand how BBS affects intelligence and daily living skills. **What they found:** The average IQ score was about 74, with abo...
This study looked at a condition called hydrocolpos, where girls are born with a blockage in their vaginal area that prevents normal fluid drainage. The researchers examined 13 girls (ages 1 month to 14 years) who had this condition and developed a new way to classify how severe the blockage is usin...
This research describes a case of a baby diagnosed with Bardet-Biedl Syndrome (BBS) before birth. BBS is a rare inherited condition that affects multiple parts of the body, including the eyes, kidneys, hands and feet, brain development, and reproductive organs. During a routine pregnancy ultrasound...
This study used a powerful computer program called AlphaFold3 to create detailed 3D models of the BBSome - a group of eight proteins that work together and are involved in Bardet-Biedl Syndrome (BBS). The BBSome helps transport important proteins in and out of cilia, which are tiny hair-like structu...
This case report describes a treatment success story for a very young child with a rare genetic condition that causes extreme hunger and obesity. The 2-year-old patient had leptin receptor deficiency, which means their body couldn't properly control appetite and weight. This led to constant, intense...
No abstract available for this paper.
This research report describes four children from two Pakistani families who were diagnosed with Bardet-Biedl Syndrome (BBS) based on their symptoms, since genetic testing wasn't available. The study looked at two pairs of siblings - two brothers aged 17 and 21 from one family, and a 9-year-old boy...
This study looked at the genetic causes and symptoms of Bardet-Biedl Syndrome (BBS) in 15 patients from India. The researchers used advanced genetic testing to identify which specific genes were damaged in each patient, then compared the symptoms to see if certain gene problems caused more severe il...
No abstract available for this paper.
This study looked at a medication called setmelanotide in 26 people with Bardet-Biedl Syndrome (BBS) to see if it could help with some of the serious health problems that come with this condition. All patients in the study had fatty liver disease (a condition where fat builds up in the liver), and m...
This study describes a 6-month-old baby girl who was initially thought to have Bardet-Biedl Syndrome (BBS) but actually had two separate genetic conditions. The baby had severe vision problems from birth (unable to track objects visually, with rapid eye movements called nystagmus) and extra fingers...
This study looked at a medication called setmelanotide to help with weight management in people with Bardet-Biedl Syndrome (BBS). The researchers compared 29 patients who took setmelanotide for one year with 58 similar patients who didn't receive the treatment. They wanted to see if the medication h...