Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air

Classic galactosemia is caused by impaired galactose-1-phosphate uridyltransferase (GALT EC 2.7.712). If discovered and treated within the first days of life, the acute problems of hepatocellular damage, sepsis, and death are prevented. However, chronic problems such as ataxia, tremor, dyspraxic speech, and ovarian failure may occur. To determine whether screening newborns before discharge from the nursery for GALT deficiency is feasible and whether acute and chronic signs could be prevented by earlier intervention, we developed a simplified "breath test." We quantitated total body oxidation of C-D-galactose to CO2 in expired air by normal newborns between 2 h and 2 mo of age and compared their results to older children with GALT deficiency. We found no differences in total body galactose oxidation (TBGO) among normal newborns up to 48 h of age, but a 2-fold rise in TBGO developed during their first 2 wk of life. Older children with galactosemia had significantly less oxidative capacity than normal newborns. We conclude that newborn breath testing for total body galactose oxidation is feasible before discharge from nursery. It has potential utility for both preventing acute neonatal toxicity and determining the mechanisms producing long-term complications such as ovarian failure, dyspraxia, ataxia, and tremors.     

Relative safety of mirtazapine overdose.

A 43-y-o male with a history of AIDS, atrial fibrillation, and alcohol abuse presented to the emergency department 2 h after ingestion of 25 tablets of 15 mg mirtazapine (total 375 mg) with ethanol in a suicide attempt (no other coingestion). Vital signs were normal except for a mild tachycardia (rate 112). Physical examination was unremarkable except for lethargy. Fifty grams of activated charcoal with sorbitol was given. Electrocardiogram showed sinus tachycardia, left ventricular hypertrophy, and non-specific ST-segment changes. Serum mirtazapine on admission was 530 ng/mL (therapeutic level 20-50 ng/mL). Overnight monitoring revealed no tachyarrythmias, and discharge occurred after psychiatric evaluation. It appears that ingestions of mirtazapine approximately 10-fold of therapeutic exhibit minimal acute toxicity. From this and other cases in the literature exhibiting a 10-fold overdose, we conclude that isolated mirtazapine ingestions of this magnitude require no acute intervention other than short term (about 6 h) observation.     

Durability of benefits of endovascular versus conventional abdominal aortic aneurysm repair

PURPOSE: Endovascular abdominal aortic aneurysm (AAA) repair is reported to result in less initial patient morbidity and a shorter hospital length of stay (LOS) when compared with conventional AAA repair. We sought to examine the durability of this result during the intermediate follow-up interval. METHODS: The records of all admissions for all patients who underwent AAA repair during a 26-month interval were reviewed. RESULTS: Three hundred thirty-seven (337) patients underwent procedures to repair AAAs (163 open and 174 endovascular). Endovascular procedures were performed with a variety of devices (Talent, 108; Ancure, 36; AneuRx, 26; Zenith, 2; and Cordis, 2) and configurations (141 bifurcated and 33 aortomonoiliac). The mean follow-up period was 10.6 months (endovascular repair) and 12.3 months (open repair). LOS did not significantly vary by device (P =.24 to P =.92) or configuration (P =.24). The initial median LOS for procedures was significantly shorter (P =.009) for endovascular repairs (5 days) than for open procedures (8 days). However, the patients who underwent endovascular repair were more likely to be readmitted during the follow-up interval when compared with patients who underwent open procedure. The readmission-free survival rate after AAA repair at 12 months was 95% for patients for open AAA repair versus 71% for patients for endovascular repair (P <.001). If the total hospital days were compared, including the initial and all subsequent AAA-related admissions, there was no significant difference for mean LOS for patients who underwent endovascular versus open AAA procedures (11 days versus 13.6 days; P =.21). The patients for endovascular AAA repair most commonly needed readmission for treatment of endoleak (n = 31), wound infection (n = 12), and graft limb thrombosis (n = 9). Although women had similar LOS to men for endovascular repair (P =.44), they had longer initial LOS for open AAA repair (15 versus 10 days; P =.03). After endovascular repair, women were more likely than men to be readmitted by 12 months (51% versus 71% readmission-free survival rate; P =.03) and they had longer LOS on readmission (13.2 versus 5.2 days; P =.006). No gender differences were identified for patients after open AAA repair regarding readmission-free survival rate (P =.09) or LOS on readmission (P =.98). CONCLUSION: Although initial LOS was shorter for the patients who underwent endovascular as compared with conventional AAA repair, this advantage was lost during the follow-up interval because of frequent readmission for the treatment of procedure-related complications, chiefly endoleak. These readmissions frequently involved the performance of additional invasive procedures. Gender differences existed regarding LOS and the likelihood of complications after open and endovascular AAA repair.     

A pilot study of what African American maternal caregivers and their adolescent daughters talk about when asked to discuss tobacco together

Parents play a critical role in shaping their children’s substance use behaviors, yet few studies have examined the messages that caregivers give their adolescents about tobacco. In this study, we identify tobacco-related messages discussed by African American maternal caregivers and their adolescent daughters. Twenty-five African American maternal caregivers and their adolescent daughters participated in a video-taped discussion about tobacco. Discussions were transcribed and coded thematically. Seven themes emerged, which were grouped into tobacco-messages and communication strategies. Messages included health risks, non-health-related reasons to stop smoking, reasons people smoke, and tobacco products and marijuana. Strategies caregivers used to communicate their tobacco-related messages included sharing personal or their families’ experience with smoking, using humor, and role-playing. Finally, embedded within all of the themes, participants expressed their disapproval of tobacco use, whether it was directed at their own use, their adolescents’ use, a family members’ use, or peers’ use. African American maternal caregivers and their daughters openly talk about a variety of tobacco-related topics, and caregivers are open to sharing their own and their families’ experience with substance use. Findings also suggest that having caregivers and their adolescents participate in discussions tasks could be potentially beneficial in facilitating discussions and could identify areas in which caregivers could use help in discussing sensitive topics.     

Circulation of hepatitis B virus genotype-E among outpatients in tertiary hospitals in the Niger-Delta region of Nigeria

IntroductionHepatitis B virus (HBV) infection continues to be a significant public health challenge globally, with higher disease burden in developing countries. HBV genotypes are associated with different geographical regions and clinical outcomes. Limited information exists on epidemiology of HBV in the Niger-Delta region (South-South) of Nigeria. Consequently, this study was designed to characterise hepatitis B virus infection among outpatients in selected tertiary hospitals in the region.MethodologyBetween June and August 2017, consenting nine hundred asymptomatic out-patients were enrolled and initially screened for HBV infection using one step Hepatitis B surface antigen (HBsAg) strip and subsequently re-tested using HBsAg and Hepatitis B core total antibody (anti-HBc) specific Enzyme-Linked Immunosorbent Assay (ELISA). Blood serum with detectable HBsAg were subsequently subjected to DNA extraction, S-gene amplification using a nested polymerase chain reaction (PCR) protocol, gel electrophoresis, sequencing and phylogenetic analysis.ResultsSeroprevalence of HBsAg was 4.6% (95% CI 2.5–7.1) and anti-HBc was 10.1% (95% confidence interval (CI) 6.1–15.3). Of the 41 HBsAg positive samples subjected to DNA extraction and HBV S-gene specific PCR, only 6 (14.6%) yielded the expected ∼408bp band. Phylogenetic analysis based on HBV pre-S/S sequences identified all six typable samples as genotype E, subtype ayw4 of the West African clade.ConclusionResults of the study confirm the presence and circulation of HBV genotype-E in the Niger-Delta region of Nigeria, thus corroborating the inclusion of the country in the Genotype E crescent. The authors advocate value-added HBV intervention in the region and the country at large.     

Leveraging Clinical Digitized Data to Understand Temporal Characteristics and Outcomes of Acute Myocardial Infarctions at a Tertiary Care Medical Centre in Pakistan from 1988–2018 – Methods and Results

Background and Objective:Few data exist on trends in acute myocardial infarction (AMI) patterns spanning recent epidemiological shifts in low middle-income countries (LMICs). To understand temporal disease patterns of AMI characteristics and outcomes between 1988–2018, we used digitized legacy clinical data at a large tertiary care centre in Pakistan.Methods:We reviewed digital health information capture systems maintained across the Aga Khan University Hospital and obtained structured elements to create a master dataset. We included index admissions of patients >18 years that were discharged between January 1, 1988, and December 31, 2018, with a primary discharge diagnosis of AMI (using ICD-9 diagnoses). The outcome evaluated was in-hospital mortality.Clinical characteristics derived from the electronic database were validated against chart review in a random sample of cases (k 0.53–1.00).Results:The final population consisted of 14,601 patients of which 30.6% (n = 4,470) were female, 52.4% (n = 7,651) had ST elevation MI and 47.6% (n = 6,950) had non-ST elevation MI. The median (IQR) age at presentation was 61 (52–70) years. Overall unadjusted in-hospital mortality was 10.3%. Across the time period, increasing trends were noted for the following characteristics: age, proportion of women, prevalence of hypertension, diabetes, proportion with NSTEMI (all p_trend < 0.001). In-hospital mortality rates declined significantly between 1988–1997 and 2008–2018 (13.8% to 9.2%, p < 0.001).Conclusions:The patterns of AMI have changed over the last three decades with a concomitant decline in in-hospital mortality at a tertiary care centre in Pakistan. Clinical digitized data presents a unique opportunity for gaining insights into disease patterns in LMICs.     

The effect of continuous passive motion on knee ligament reconstruction with carbon fibre. An experimental investigation

Our purpose was to determine whether continuous passive motion enhanced the quality of knee ligament reconstruction using carbon fibre. In 46 rabbits the medial collateral ligaments were excised and replaced with carbon fibre prostheses. The animals were treated postoperatively by either continuous passive motion, cast immobilisation or cage activity, termed intermittent active motion. At six weeks, the ligaments were compared histologically and biomechanically with normal (control) medial collateral ligaments and with sham-operated controls. The ligaments treated with continuous passive motion were superior to those in the other two treatment groups. There were no ligament failures in any of the groups. This study suggests that continuous passive motion, initiated immediately postoperatively, enhances the biomechanical properties of carbon fibre ligament replacement of the medial collateral ligament while preventing the harmful effects of joint immobilisation.