Impact of strengthening exercises with and without blood flow restriction on quadriceps of knee osteoarthritis patients.

OBJECTIVE: To determine the effect of blood flow restriction with strengthening exercises on knee osteoarthritis patients. METHOD: The case-control study was conducted at the Department of Physical Medicine and Rehabilitation, Combined Military Hospital, Okara, Pakistan, from June to December 2018, and comprised knee osteoarthritis patients who were assigned to two equal groups. The cases in Group A received strengthening exercises with blood flow restriction, while the controls in Group B received strengthening exercises without blood flow restriction. Both groups were given 4 sessions of treatment per week with 5-minute warm-up on a stationary bike for 4 weeks. Outcome was measured using visual analogue scale, Kujala scoring questionnaire and muscle girth measurement. Data was analysed using SPSS 20. RESULTS: Of the 30 patients, 15(50%) were in each of the two groups. There were 20(66.7%) females and 10(33.3%) men with an overall mean age of 66.5}6.5 years. Also, 18(60%) subjects were overweight on the basis of body mass index. There were significant improvement in terms of pain and disability in both the groups (p<0.05)), but only Group A showed significant improvement in muscle girth (p<0.05). Overall there was no significant difference between the groups (p>0.05). CONCLUSIONS: Strengthening exercises reduced pain and disability, but the addition of blood flow restriction had no significant impact except in terms of muscle size.

A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.

Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner. BBS is caused by disease causing sequence variants in the 22 BBS genes identified to date. In the present study, a single consanguineous Pakistani Family with BBS was clinically and genetically characterized. After establishing linkage to a BBS gene on chromosome 4q27, Sanger sequencing was performed in all available affected and unaffected members. Sequence analysis of the BBS7 gene revealed novel substitution mutation (c.719G>T; p. Gly240Val). Our findings further extend the body of evidence implicating BBS7 in causing BBS and expand the mutation spectrum.