Validation of the breathmobile case identification survey for asthma screening in children with sickle cell disease.

Background: Asthma is a chronic airway disorder with variable/recurring symptoms, airflow obstruction, bronchial hyperresponsiveness, and an inflammation. The expert panel report of the National Heart Lung and Blood Institute recommends asthma screening in sickle cell disease (SCD); however, specific approach is not mentioned. We hypothesize that the breathmobile case identification survey (BCIS) is a valid asthma screening tool in children with SCD.Methods: This prospective, single-center study enrolled 129 SCD patients aged 5 to 18 years from March 2016 to March 2018. All patients completed BCIS, spirometry, and fractional exhaled nitric oxide (FeNO). A single pulmonologist blinded to the BCIS results evaluated patients for asthma.Results: Asthma prevalence was 41%. Male gender (60.4%; p = 0.041), allergic rhinitis (86.8%; p < 0.01), hydroxyurea usage (73.6%; p < 0.01), and family history of asthma (34%; p < 0.01) were higher but not self-reported parental asthma history, eczema, and tobacco smoke exposure in the asthma group compared to the nonasthma group. FEV1 (p = 0.003), FVC (p = 0.02), FEV1/FVC (p = 0.053), and FEF25-75% (p = 0.02) were lower in asthma. FeNO levels were comparable in both groups. The sensitivity, specificity, positive predictive value, and negative predictive value of the abbreviated BCIS were 67.3%, 90.8%, 83.3%, and 80.2% for asthma; and 82.1%, 90.8%, 76.7%, and 93.2% for persistent asthma, respectively. Persistent asthma patients had a trend of higher hydroxyurea use (82.8% vs. 58.3%; p = 0.049) and tobacco smoke exposure (55.2% vs. 29.2%; p = 0.057) compared to intermittent asthma.Conclusion: We have validated the BCIS to screen for asthma in SCD. Spirometry but not FeNO may support an asthma diagnosis.

Dapsone for immune thrombocytopenic purpura in children and adults.

Dapsone is one of the second line treatments of immune thrombocytopenic purpura (ITP). Dapsone is cheap and has response rates comparable to other second line treatment options like azathioprine, danazol, cyclophosphamide, cyclosporine, and vincristine. This retrospective analysis includes 38 patients (out of total 313 patients) of ITP treated with dapsone from 2004 to 2012. All male patients were screened for G6PD deficiency before starting dapsone. Out of 38 patients (12 children and 26 adults), one was newly diagnosed ITP, seven were persistent ITP, and 30 were chronic ITP. Five patients had side effects of dapsone; two required discontinuation due to skin rashes. The average dose of dapsone was 1.57 mg/kg/day and time to response was 57 days (19-108 days). The response was irrespective of previous treatments and response to them. The response rate was 48.6% (complete response = 40.5%). Only two adult patients had sustained response (> 6 months) after dapsone discontinuation. There were no predictors identified for dapsone response. Dapsone is a safe and cheap second-line therapy for ITP with a response rate of about 50% (majority being CR). A response to dapsone is slow, sustained, and relapses are uncommon on therapy. Dapsone withdrawal leads to relapse in most of the patients.

ß-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.

Prenatal diagnosis (PND) is one of the most cost effective preventive methods, but it is available only in the large cities of India. Therefore, we initiated a program that offers PND and allows us to determine the prevalence of various mutations. Pregnant females (n = 111,426) were screened for hemoglobinopathies using complete blood count (CBC) and high performance liquid chromatography (HPLC). If the female had a hemoglobinopathy, her husband was then tested. If hemoglobinopathies were seen in both partners, a genetic mutation study was performed on the couple. Fetal samples were obtained by either chorionic villus sampling (CVS) in 70.6% or amniocentesis in 29.4%. The study included 282 couples. IVS-I-5 (G > C) was the most common mutation in all castes except in the Sindhis and Lohanas, where the 619 bp deletion was the most common. Prenatal testing was informative in 97.9% of the couples. A significant number of couples (41.0%) underwent PND during their first pregnancy. Seven patients with ß-thalassemia (ß-thal) trait had normal Hb A2 levels. The Hb A2 and Hb F values varied significantly (p < 0.0001 and 0.0082, respectively) among mutations associated with ß-thal. The IVS-I-5, 619 bp deletion, codons 41/42 (-CTTT), codons 8/9 (+G) and IVS-I-1 (G > T or G > A), were present in 81.0% of the couples tested. ß-Thalassemia mutation frequency varied among the different castes, underlining the need for evolving a testing strategy that considers the caste system. Targeting antenatal clinics could also prove to be a most cost effective way of preventing hemoglobinopathies.

Adapting an Efficacious Peer-Delivered Physical Activity Program for Survivors of Breast Cancer for Web Platform Delivery: Protocol for a 2-Phase Study.

BACKGROUND: Interventions promoting physical activity (PA) among survivors of cancer improve their functioning, reduce fatigue, and offer other benefits in cancer recovery and risk reduction for future cancer. There is a need for interventions that can be implemented on a wider scale than that is possible in research settings. We have previously demonstrated that a 3-month peer-delivered PA program (Moving Forward Together [MFT]) significantly increased the moderate to vigorous PA (MVPA) of survivors of breast cancer. OBJECTIVE: Our goal is to scale up the MFT program by adapting an existing peer mentoring web platform, Mentor1to1. InquistHealth's web platform (Mentor1to1) has demonstrated efficacy in peer mentoring for chronic disease management. We will partner with InquisitHealth to adapt their web platform for MFT. The adaptation will allow for automating key resource-intensive components such as matching survivors with a coach via the web-based peer mentoring platform and collecting key indexes to prepare for large-scale implementation. The aim is to streamline intervention delivery, assure fidelity, and improve survivor outcomes. METHODS: In phase 1 of this 2-phase study, we will interview 4 peer mentors or coaches with experience in delivering MFT and use their feedback to create Mentor1to1 web platform adapted for MFT (webMFT). Next, another 4 coaches will participate in rapid, iterative user-centered testing of webMFT. In phase 2, we will conduct a randomized controlled trial by recruiting and training 10 to 12 coaches from cancer organizations to deliver webMFT to 56 survivors of breast cancer, who will be assigned to receive either webMFT or MVPA tracking (control) for 3 months. We will assess effectiveness with survivors' accelerometer-measured MVPA and self-reported psychosocial well-being at baseline and 3 months. We will assess implementation outcomes, including acceptability, feasibility, and program costs from the perspective of survivors, coaches, and collaborating organizations, as guided by the expanded Reach, Effectiveness, Adoption, Implementation, Maintenance (RE-AIM) framework. RESULTS: As of September 2023, phase 1 of the study was completed, and 61 survivors were enrolled in phase 2. Using newer technologies for enhanced intervention delivery, program management, and automated data collection has the exciting promise of facilitating effective implementation by organizations with limited resources. Adapting evidence-based MFT to a customized web platform and collecting data at multiple levels (coaches, survivors, and organizations) along with costs will provide a strong foundation for a robust multisite implementation trial to increase MVPA and its benefits among many more survivors of breast cancer. CONCLUSIONS: The quantitative and qualitative data collected from survivors of cancer, coaches, and organizations will be analyzed to inform a future larger-scale trial of peer mentoring for PA delivered by cancer care organizations to survivors. TRIAL REGISTRATION: ClinicalTrials.gov NCT05409664; https://clinicaltrials.gov/study/NCT05409664. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/52494.

"Selection of statistical tests influences the interpretation of a study outcome" a comment on "Giriraja KV, Bhatnagar SK, Tomlinson L, Sancilio F. An open-label, multicenter, phase 2 study of a food enriched with docosahexaenoic acid in adults with sickle cell disease. Prostaglandins Leukot Essent Fatty Acids. 2023 Jun; 193:102574. Doi: 10.1016/j.plefa.2023.102574. Epub 2023 Apr 7. PMID: 37121179".

Parametric tests such as t-tests require a normal distribution of data. However, the determination of normal distribution may not be conclusive while dealing with a small sample size. Non-parametric tests such as Wilcoxon tests may be used in this situation, as these tests do not require normal distribution.

Real-world insights from launching remote peer-to-peer mentoring in a safety net healthcare delivery setting.

Peer mentors have been proven to improve diabetes outcomes, especially among diverse patients. Delivering peer mentoring via remote strategies (phone, text, mobile applications) is critical, especially in light of the recent pandemic. We conducted a real-world evaluation of a remote diabetes intervention in a safety-net delivery system in New York. We summarized the uptake, content, and pre-post clinical effectiveness for English- and Spanish-speaking participants. Of patients who could be reached, 71% (n = 690/974) were enrolled, and 90% of those (n = 618/690) participated in coaching. Patients and mentors had a mean of 32 check-ins, and each patient set an average of 10 goals. 29% of the participants accessed the program via the smartphone application. Among participants with complete hemoglobin A1c data (n = 179), there was an absolute 1.71% reduction (P < .01). There are multiple lessons for successful implementation of remote peer coaching into settings serving diverse patients, including meaningful patient-mentor matching and addressing social determinants.

A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.

Individuals with monogenic disorders can experience variable phenotypes that are influenced by genetic variation. To investigate this in sickle cell disease (SCD), we performed whole-genome sequencing (WGS) of 722 individuals with hemoglobin HbSS or HbSß0-thalassemia from Baylor College of Medicine and from the St. Jude Children's Research Hospital Sickle Cell Clinical Research and Intervention Program (SCCRIP) longitudinal cohort study. We developed pipelines to identify genetic variants that modulate sickle hemoglobin polymerization in red blood cells and combined these with pain-associated variants to build a polygenic score (PGS) for acute vaso-occlusive pain (VOP). Overall, we interrogated the α-thalassemia deletion -α3.7 and 133 candidate single-nucleotide polymorphisms (SNPs) across 66 genes for associations with VOP in 327 SCCRIP participants followed longitudinally over 6 years. Twenty-one SNPs in 9 loci were associated with VOP, including 3 (BCL11A, MYB, and the ß-like globin gene cluster) that regulate erythrocyte fetal hemoglobin (HbF) levels and 6 (COMT, TBC1D1, KCNJ6, FAAH, NR3C1, and IL1A) that were associated previously with various pain syndromes. An unweighted PGS integrating all 21 SNPs was associated with the VOP event rate (estimate, 0.35; standard error, 0.04; P = 5.9 × 10-14) and VOP event occurrence (estimate, 0.42; standard error, 0.06; P = 4.1 × 10-13). These associations were stronger than those of any single locus. Our findings provide insights into the genetic modulation of VOP in children with SCD. More generally, we demonstrate the utility of WGS for investigating genetic contributions to the variable expression of SCD-associated morbidities.

Mass ethion poisoning with high mortality.

INTRODUCTION: Fifteen people who consumed a meal during a social ceremony at a remote farm developed symptoms and signs of organophosphate poisoning. METHODS: Information was gathered from villagers and doctors at the primary health center and district hospital. Serial measurements of plasma and red blood cell cholinesterase activity levels were carried out and the organophosphate compound was identified in blood samples. RESULTS: Clinical toxicity included abdominal pain, vomiting, diarrhea, excessive secretions, and respiratory distress. The victims were taken to a community health center about 30 km away where three people died. The others were taken to the district level hospital at Palanpur where five died. Of the seven remaining victims who were transferred to a tertiary care hospital at Ahmedabad, one died during transport and another succumbed within a few hours. The remaining five people were hospitalized. Three recovered within a week but two developed complications: one had a lung infection and the other had cerebral anoxia following cardiorespiratory arrest. The person with cerebral anoxia died after eight and a half months. Red blood cell cholinesterase levels on the day of admission correlated well with clinical severity and outcome of the patients. The pesticide was identified as ethion. CONCLUSIONS: Pesticide poisonings in developing countries have high morbidity and mortality rates, as facilities for immediate treatment are not readily available. Such incidents should sensitize clinical toxicologists, health authorities, and policy makers to the problems of pesticide poisoning in third world countries.

Early biochemical alterations in manganese toxicity: ameliorating effects of magnesium nitrate and vitamins.

Manganese-induced early biochemical changes and effects of supplementation of magnesium nitrate (Mg(NO3)2) and antioxidant vitamins (A, C, D and E) were studied in rats intoxicated with manganese. Significant elevation in the level of chlorides in plasma, erythrocytes, liver and cerebellum, and a decrease in plasma inorganic phosphate (pi) with an increase in liver pi were observed in animals exposed to manganese as compared to controls. The level of erythrocyte-acid labile phosphate (ALP), nicotinamide adeninedinucleotide (NAD+) and plasma sialic acid (N-acetylneuraminic acid, NANA) also increased significantly. Elevated levels of chlorides in plasma, erythrocytes and cerebellum reversed to normal control values whereas liver chlorides restored partially by the supplementation of Mg(NO3)2. Vitamins supplementation was effective to reverse chlorides level in erythrocytes, liver and cerebellum. Decreased level of pi in plasma and the highly elevated level of erythrocyte ALP were also recovered in animals received Mg(NO3)2 in addition to MnSO4. However, such effect of Mg(NO3)2 was not seen in lowering the elevated level of NANA that restored by the administration of vitamins. Thus, the early alterations in plasma levels of chlorides, pi, and NANA and erythrocyte-ALP seem to be an indicative of early manganese toxicity while Mg(NO3)2 and vitamins supplementation appear to provide, at least in part, protection against manganese toxicity.

Financial effects of health information technology: a systematic review.

BACKGROUND: Health information technology (HIT) is widely viewed as an important lever with which to improve the quality and efficiency of the healthcare system. However, there has long been debate about its financial effects. OBJECTIVES: To characterize the existing data on the financial effects of HIT and to consider the implications for the effect of HIT on healthcare spending. STUDY DESIGN: Systematic literature review. METHODS: We identified articles by (1) searching PubMed using the intersection of terms related to HIT applications and terms related to financial or economic effect; and (2) reviewing the reference lists of the included articles as well as additional policy articles and literature reviews. RESULTS: A total of 57 articles met our inclusion criteria, including 43 articles (75%) reporting financial benefits to a stakeholder associated with HIT. These included 26 articles (46%) reporting cost savings, 6 articles (11%) reporting revenue gains, and 11 articles (19%) reporting a mixture of cost savings and revenue gains. Among articles with experimental study designs, 22 of 34 (65%) reported financial benefits; and among articles explicitly measuring costs and benefits, 19 of 21 (90%) reported financial benefits. The most prevalent mechanisms were savings on administrative goods and/or personnel, savings on pharmaceuticals, and revenue gains through improved billing. Overall there is a dearth of articles on this topic, especially ones with strong study designs and financial analyses. CONCLUSIONS: HIT can have financial benefits, but more research is required, especially on HIT's effects under emerging delivery and payment reform efforts.

Monocrotophos poisoning through contaminated millet flour.

Several episodes of mass poisoning by organophosphates (OPs) have been reported from the developing countries. The diagnosis of OP-poisoning is mainly based on the characteristic clinical features and history of exposure to a known OP compound. Estimation of serum and red blood cell (RBC) cholinesterase activities are helpful in confirming the diagnosis. However, there is controversy regarding a definite relationship between serum cholinesterase activity and the severity of clinical manifestations and prognosis. This report describes an episode of mass monocrotophos poisoning that occurred due to accidental ingestion of monocrotophos-contaminated millet (so-called bavta) flour involving eight severely poisoned persons. Clinical presentation included severe abdominal pain, diarrhoea, vomiting, pupil narrowing, and difficulty breathing. On hospital admission, plasma cholinesterase (PChE) and especially RBC acetylcholinesterase (AChE) activities correlated well with clinical symptoms presented by the patients. This case study highlights the need for clinicians to be aware of OP-pesticide poisoning from food sources and the need to look for depressed PChE and AChE activities that may point to OP exposure, so that OP-poisoning can be identified immediately and patients can receive specific treatment, rather than general treatment for food poisoning.

Long term survival in aggressive NK cell leukemia.

Aggressive natural killer cell leukemia (ANKL) is a rare type of leukemia. It is rapidly progressing and the outcome is poor, with short survival. There is paucity of reports of ANKL in the Indian pediatric literature. We report a pediatric ANKL case that is in complete continuous remission after four years.

Results and risk factors for recurrence following single-level tubular lumbar microdiscectomy.

OBJECT: The use of minimally invasive surgical techniques, including microscope-assisted tubular lumbar microdiscectomy (tLMD), has gained increasing popularity in treating lumbar disc herniations (LDHs). This particular procedure has been shown to be both cost-efficient and effective, resulting in outcomes comparable to those of open surgical procedures. Lumbar disc herniation recurrence necessitating reoperation, however, remains an issue following spinal surgery, with an overall reported incidence of approximately 3-13%. The authors' aim in the present study was to report their experience using tLMD for single-level LDH, hoping to provide further insight into the rate of surgical recurrence and to identify potential risk factors leading to this complication. METHODS: The authors retrospectively reviewed the cases of 217 patients who underwent tLMD for single-level LDH performed identically by 2 surgeons (J.B., R.H.) between 2004 and 2008. Evaluation for LDH recurrence included detailed medical chart review and telephone interview. Recurrent LDH was defined as the return of preoperative signs and symptoms after an interval of postoperative resolution, in conjunction with radiographic demonstration of ipsilateral disc herniation at the same level and pathological confirmation of disc material. A cohort of patients without recurrence was used for comparison to identify possible risk factors for recurrent LDH. RESULTS: Of the 147 patients for whom the authors were able to definitively assess symptomatic recurrence status, 14 patients (9.5%) experienced LDH recurrence following single-level tLMD. The most common level involved was L5-S1 (42.9%) and the mean length of time to recurrence was 12 weeks (range 1.5-52 weeks). Sixty-four percent of the patients were male. In a comparison with patients without recurrence, the authors found that relatively lower body mass index was significantly associated with recurrence (p = 0.005), such that LDH in nonobese patients was more likely to recur. CONCLUSIONS: Recurrence rates following tLMD for LDH compare favorably with those in patients who have undergone open discectomy, lending further support for its effectiveness in treating single-level LDH. Nonobese patients with a relatively lower body mass index, in particular, appear to be at greater risk for recurrence.

An analysis of 30 cases of myelodysplastic syndrome.

Myelodysplastic syndrome (MDS) is a clonal disorder of pluripotential stem cells of the bone marrow. The purpose of the study was to obtain epidemiological data of MDS. Thirty cases of MDS presented from April 1998 to May 2006 are included in this study. Complete blood counts were performed in an automated cell counter. Bone marrow aspiration, trephine biopsy and chromosomal study were carried out. The dry film was stained using a Romanwasky stain and Perl's stain. Fifteen cases were male and 15 cases were female. The mean age at presentation was 55 years (range 8-73 years). A majority of the patients presented with weakness (63.33%). Autoimmune manifestations in the form of joint pain were present in 13.33%. Patients were symptomatic for a prolonged period before diagnosis could be reached (average 358.8 days). A majority of the patients had MDS-refractory anemia (MDS-RA) or MDS-RA with excess blasts (MDS-RAEB-2) at presentation. Three patients had chromosomal abnormalities (27.27%). Eight patients (26.7%) were relatively young at presentation, less than 50 years of age. Three (10%) were children. A majority of the patients opted for symptomatic treatment only.

An analysis of 8 cases of factor X deficiency.

BACKGROUND: Factor X deficiency is a rare coagulation defect. There are occasional reports of factor X deficiency from India. Difficulty in accurate diagnosis and non-availability of ideal treatment is discussed. METHODS: Eight cases of factor X deficiency, diagnosed from 1992 to 2007 are reported here RESULTS: Seven were male while one was female. Seven patients were symptomatic from early childhood. One patient became symptomatic from 18 years of age. Factor X assay was done in 4 patients, 3 had severe deficiency and one had mild deficiency. One patient had associated factor IX deficiency. Three patients had repeated bleeding episodes requiring multiple transfusions. Two patients had intracranial bleed and one had umbilical cord bleeding at birth. There was no mortality. No patient received prophylactic transfusion. CONCLUSIONS: Factor X deficiency is a rare coagulation defect. Hereditary deficiency should be distinguished from acquired deficiency. CNS, joints and skin are the common sites of bleeding.