Effectiveness of cognitive rehabilitation for people with multiple sclerosis: a meta-synthesis of patient perspectives

While previous randomised controlled trials and meta-analyses offer only limited evidence for the effectiveness of cognitive rehabilitation, qualitative studies examining patient perspectives report more positive outcomes. This meta-synthesis of qualitative studies examined patient perspectives of cognitive rehabilitation for memory, attention, and executive function problems in people with multiple sclerosis. Using set eligibility criteria, we screened electronic databases, reference lists, and academic networks for relevant papers. Seven papers (195 participants) were selected. Two independent researchers conducted quality appraisals of papers. Data analysis, guided by the thematic synthesis approach, yielded six main themes. These suggested that patients benefitted from the group environment in rehabilitation. Cognitive rehabilitation facilitated the participants’ reflection and awareness of their cognitive deficits, and was associated with increased knowledge and understanding of their illness. Increased strategy use was reported and associated with improvements in cognitive functioning and greater confidence and perseverance. Participants reported emotional and social improvements, and felt more optimistic. Overall, these changes had a positive impact on participants’ quality of life. This synthesis of qualitative studies indicates that people with multiple sclerosis who experience cognitive deficits benefit from cognitive rehabilitation programmes. This finding must, however, be viewed in light of the limitations of this meta-synthesis. The meta-synthesis was registered in the PROSPERO database under CRD42017040148.     

Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families

Congenital methemoglobinemia is a relatively rare clinical disorder characterized by life-long cyanosis, caused by either an inherited mutant hemoglobin (Hb-M) or deficiency of physiologically active NADH-dependent methemoglobin reductase (NADH-MR). NADH-MR deficiency leads to two different types of recessive congenital methemoglobinemia. In type I, cyanosis is the only major symptom and NADH-MR deficiency is restricted only to the red blood cells. In type II, cyanosis is associated with severe mental retardation and neurological impairment. The objective of this study is to establish the cause of cyanosis in our cases of congenital methaemoglobinemia. Erythrocyte NADH-MR activity was assayed spectrophotometrically. Spectral analysis of the hemolysate treated with potassium ferricyanide was recorded between 400-700 nm and Hb electrophoresis on starch gel at pH 7.0 was done to rule out the presence of Hb-M. NADH-MR deficiency was detected in 3 families. There was a history of consanguinity in one of these cases. The three propositi presented with breathlessness, fever and peripheral cyanosis. There was no history of cardiac illness or exposure to drugs and chemicals. There were no signs and symptoms of mental retardation. The presence of Hb-M was ruled out. Hb-A2, Hb-F, G6PD activity and reduced glutathione levels were normal. NADH-MR activity in all the cases ranged from 4.1 to 9.2 IU/g Hb (normal range 7.0-24.0 IU/g Hb). We describe NADH-MR deficiency in three unrelated cases (age 4 months to 6 years) where the activity of the enzyme was 30-40% of normal. These three cases of congenital methemoglobinemia are due to type-I NADH-MR deficiency without mental retardation.     

The effect of UGT1A1 promoter polymorphism on bilirubin response to hydroxyurea therapy in hemoglobinopathies

ObjectivesHydroxyurea is known to reduce ineffective erythropoiesis and thereby hemolysis leading to a reduction in bilirubin levels in patients with hemoglobinopathies. However, the effect of hydroxyurea on hyperbilirubinemia in relation to the UGT1A1 gene promoter polymorphism is not known in Indian patients with different hemoglobinopathies.Design and methodsWe studied 112 patients (77 sickle cell anemia, 22 β-thalassemia intermedia and 13 HbE-β-thalassemia) who were on hydroxyurea therapy for 2 years for their response towards hyperbilirubinemia associated with UGT1A1 promoter polymorphism.ResultsThe patients with (TA)₇/(TA)₇ repeats had significantly higher serum bilirubin levels than those with (TA)₆/(TA)₆ repeats in all the groups and the reduction in serum bilirubin after hydroxyurea therapy was still higher among patients with (TA)₇/(TA)₇ repeats when compared with (TA)₆/(TA)₆ repeats.ConclusionsHigher bilirubin levels were associated with the (TA)₇/(TA)₇ sequence however they did not come down to normal levels after hydroxyurea therapy.     

☆Comparison of transcutaneous laryngeal ultrasound with video laryngoscope for assessing the vocal cord mobility in patients undergoing thyroid surgery

ObjectiveWe evaluated the accuracy and feasibility of transcutaneous laryngeal ultrasonography as an alternative to videolaryngoscopy for assessing vocal cord mobility to rule out recurrent laryngeal nerve injury following thyroidectomy.MethodsForty-five adult patients scheduled to undergo elective thyroidectomy under general anesthesia were included. Preoperatively, indirect laryngoscopy and transcutaneous laryngeal ultrasonography was done for assessing vocal cord mobility. Intraoperatively, following induction, patients were intubated using videolaryngoscope. On completion of the surgical procedure, one anesthetist performed videolaryngoscopy so as to record vocal cord mobility while the patients were being extubated in deep plane of anesthesia. Simultaneously another anesthesiologist performed transcutaneous laryngeal ultrasonography.Vocal cord mobility, changes in hemodynamics and total time duration for the two procedures was recorded. Indirect laryngoscopic assessment and flexible fiberoptic laryngoscopy was done on postoperative day 1 and 7 respectively.ResultsPostoperative videolaryngoscopy picked up bilaterally mobile vocal cords in 88.8% cases. Transcutaneous laryngeal ultrasonography could correctly identify 39(86.6%) of these patients, with 1(2.5%) patient being misdiagnosed as having bilaterally immobile vocal cords. Further, videolaryngoscopy identified 5 patients of vocal cord palsy, of which transcutaneous laryngeal ultrasonography correctly identified 3 (60%) patients. Hence, in comparison to videolaryngoscopy, the sensitivity, specificity, positive predictive value, and negative predictive value of transcutaneous laryngeal ultrasonography for assessment of vocal cords was 75%, 95.1%, 60%, and 97.5% respectively.ConclusionIn patients undergoing thyroidectomy, transcutaneous laryngeal ultrasonography can serve as a non-invasive, bedside screening tool for assessing vocal cord palsy postoperatively.     

Newborn Screening for Hemoglobinopathies and Red Cell Enzymopathies in Tripura State: A Malaria-Endemic State in Northeast India

Hemoglobinopathies are a group of inherited single gene disorders. There are reports on hemoglobin (Hb) variants identified in the tribal and non-tribal populations of Tripura State in northeastern India. This study aimed to determine the spectrum of hemoglobinopathies and enzymopathies by newborn screening in Tripura State and assess the extent of neonatal jaundice. A total of 2400?cord blood samples were collected and analyzed by high performance liquid chromatography (HPLC). Further confirmation of any abnormal HPLC was done by DNA analysis. The samples were also screened for deficiency of enzymopathies, glucose-6-phosphate dehydrogenase (G6PD) deficiency and pyruvate kinase. Of 2400?cord blood samples screened, 225 (9.3%) were Hb E (HBB: c.79G>A) heterozygotes, 80 (3.3%) were Hb E homozygotes and one carried Hb E-β-thalassemia (β-thal). Other Hb abnormalities were also detected including 15 Hb S (HBB: c.20A>T) heterozygotes, two Hb D-Punjab (HBB: c.364G>C) heterozygotes and two compound heterozygotes for Hb D-Punjab and Hb E. Of the 80 homozygous Hb E babies, four were non-tribal and 76 babies were tribal, and 225 patients carried Hb E trait, 141 were tribal, while 84 were non-tribal. Of 40 G6PD deficient babies identified, 13 had coinherited Hb E and two babies had pyruvate kinase deficiency. α Genotyping was performed in 162 affected babies, 50 of them carried α gene deletions. Newborn screening programs for Hb E, other hemoglobinopathies and G6PD deficiency must be encouraged in the malaria-endemic northeastern region of India. Drug-induced hemolysis can also be avoided by screening for G6PD deficiency at birth.