The Significance of Bradycardia in Anorexia Nervosa

Anorexia nervosa (AN) is a life-threatening condition, with a significant risk for death, due to cardiovascular complications. It is characterized by abnormal eating behavior and has the highest mortality rate of all psychiatric disorders. It has been associated with bradycardia (a heart rate [HR] of less than 60 beats per minute) (up to 95%), hypotension, mitral valve prolapse, and heart failure. The diagnosis of AN can be elusive, and more than half of all cases are undetected. The purpose of this study was to raise and improve awareness to the possible diagnosis of AN in adolescent and young adult patients with weight loss displaying bradycardia and new cardiac disorders. Clinical characteristics, HR, and electrocardiographic data of 23 consecutive patients (20 females) with AN and of 10 young adults (8 females) without AN, between the years 2006 and 2009, were recorded and summarized. At presentation 16/23 (69.6%) showed HR < 50 bpm. The mean lowest HR of all patients was 44 ± 6 (range 26 to 68) bpm. No patient needed pacemaker therapy. Bradycardia in young adults, especially females with weight loss, should raise the possible diagnosis of AN, so it can be treated early in-time, and thus prevent premature death.     

Lower eyelid swelling as a late complication of Bio-Alcamid filler into the malar area

PurposeTo report the late complications associated with permanent filler injections into the malar area for rejuvenation.MethodsA retrospective case series of three patients who presented with lower eyelid swelling several years following injection of polyalkylimide (Bio-Alcamid) into the malar area.ResultsAll patients presented with lower eyelid swelling which developed as a result of spontaneous migration of filler to the lower eyelid. Iatrogenic migration of the filler from the lower eyelid following a trial to remove resulted in an abscess formation which further complicated the removal.ConclusionsLower eyelid swelling may be one of the late complications associated with the permanent fillers into the malar area. An attempt at removal of filler by aspiration or bimanual expression may result in late migration of the product and the development of eyelid swelling.     

Retained periorbital and intracranial air-gun pellets causing sclopetaria and visual loss

Three healthy males presented on separate occasions to the emergency room at the King Khaled Eye Specialist Hospital (KKESH) after sustaining trauma by air-gun pellets. Clinical examination indicated sclopetaria in all the cases. The foreign bodies (air-gun pellets) were imbedded in different locations (subconjunctival, intraorbital, and intracranial). All cases resulted in a profound and permanent visual loss. The management of this traumatic injury is discussed and concurs with the published literature.     

Inherited paediatric neurometabolic disorders,can brain magnetic resonance imaging predict?

Objectives:To evaluate diagnostic capability of brain magnetic resonance imaging (MRI) in detection of inherited neurometabolic disorders.Methods:This retrospective observational study was performed in Radiology Department at our Hospital in Dhahran, from January 2013 to January 2020. We evaluated brain MRIs of children (under 5) who were referred to pediatric neurology for clinical suspicion of neuro-developmental delay and metabolic disease. Known perinatal ischemia and birth trauma cases were excluded. Imaging criteria included: (i) bilateral symmetric white matter signal abnormality, (ii) diffusion restriction affecting bilateral deep grey nuclei with or without brainstem involvement, (iii) brain atrophy or edema with abnormal white matter signal, (iv) characteristic MR spectroscopic finding. Presence of any one of these findings was considered positive for neurometabolic disease. Two neuroradiologists interpreted MRIs with substantial interobserver agreement. Diagnoses were confirmed on biochemical/ metabolic screening and genetic testing. A 2 × 2 contingency table was used for results. Chi square test was used to determine association.Results:Out of 133 cases, 72 (49 males, 90% AR) were found to have neurometabolic disorders. Sensitivity, specificity, positive and negative predictive values were calculated as 81.94% (CI, 71.11-90.02), 67.21% (CI, 54.00-78.69), 74.68% (CI, 66.96-81.11) and 75.93% (CI, 65.16-84.17) respectively. Findings were found significant (p-value=0.0001).Conclusion:Brain MRI can help to predict inherited neurometabolic disorders considering certain findings.

Metabolic diseases can be either inherited (inborn errors of metabolism) or acquired. Inborn errors of metabolism (IEMs) that primarily affect the central nervous system are referred to as neurometabolic diseases, and usually occur in neonates and infants.1 These diseases involve genetic defects that result in certain enzyme deficiency leading to deficiency of essential metabolite or toxic accumulation of others with specific biochemical and molecular abnormalities. Clinical presentations may be confusing and potentially lead to delay in diagnosis and treatment.2 Overall incidence of this group of disorders may vary from region to region, being much higher in communities with consanguineous marriages, ranging from 1.2 to 2 per 100,000 live births.3 Most exhibit autosomal recessive (AR) mode of inheritance. Neurometabolic disorders can be classified by various methods based on clinical and biochemical characteristics, area of brain involvement, or cellular organelle.4 Imaging based classification includes leukodystrophy (primary involvement of white matter due to genetic abnormality), leukoencephalopathy (secondary involvement of white matter either due to genetic or acquired systemic disorder), poliodystrophy (predominant involvement of grey matter), and pandydystrophy (mixed involvement of both white and grey matter).5 Central nervous system white matter is usually affected,6 and can result from various pathologic process like delayed myelination (myelin maturation delayed for expected age), hypomyelination (scarcity of myelin or arrest in myelination process), dysmyelination (deposition of abnormally composed fragile myelin), demyelination (secondary loss of myelin that may have been previously normal) and myelinopathy (vacuolating due to deranged brain iron and water hemostasis).Magnetic resonance imaging is the modality of choice for evaluation of neurometabolic disorders.7 Analyzing pattern recognition in MR imaging and clinical clues help to narrow the differential, tailor subsequent laboratory (targeted metabolomics) or genetic investigations (either requiring single gene testing or broad-spectrum genetic testing i.e., whole exome sequencing/ WES).4 The MRI can be helpful in diagnostic workup of various diseases and may be decisive for early management even before arrival of costly and time-consuming biochemical or genetic testing results.8 We therefore sought to highlight ability of MRI in predicting diagnoses of inherited neurometabolic disorders in neonates and young children considering certain MRI findings.     

Zinc Supplementation with or without Additional Micronutrients Does Not Affect Peripheral Blood Gene Expression or Serum Cytokine Level in Bangladeshi Children

Preventive zinc supplementation provided as a stand-alone dispersible tablet, or via home fortification as multiple micronutrient powders (MNPs), has been considered a potential strategy to prevent zinc deficiency and improve health (including immune) outcomes among children in low- and middle-income countries. However, the impact of zinc supplementation on immune profiles has not been well characterized. We sought to define the effect of zinc supplementation on peripheral blood gene expression and cytokine levels among young children in Dhaka, Bangladesh. In a sub-study of a large randomized, controlled, community-based efficacy trial where children 9–11 months of age received one of the following interventions on a daily basis for 24 weeks: (1) MNPs containing 10 mg of zinc; (2) dispersible tablet containing 10 mg zinc; or (3) placebo powder, we used RNA sequencing to profile the peripheral blood gene expression, as well as highly sensitive multiplex assays to detect cytokine profiles. We profiled samples from 100 children enrolled in the parent trial (zinc MNPs 28, zinc tablets 39, placebo 33). We did not detect an effect from either zinc intervention on differential peripheral blood gene expression at the end of the intervention, or an effect from the intervention on changes in gene expression from baseline. We also did not detect an effect from either intervention on cytokine concentrations. Exploratory analysis did not identify an association between undernutrition (defined as stunting, underweight or wasting) and peripheral blood gene expression. Zinc interventions in children did not produce a gene expression or cytokine signature in the peripheral blood. However, this study demonstrates a proof of principle that sensitive multi-omic techniques can be applied to samples collected in field studies.     

Quadriceps muscle volume positively contributes to ACL volume

Females have smaller anterior cruciate ligaments (ACLs) than males and smaller ACLs have been associated with a greater risk of ACL injury. Overall body dimensions do not adequately explain these sex differences. This study examined the extent to which quadriceps muscle volume (VOL_QUAD) positively predicts ACL volume (VOL_ACL) once sex and other body dimensions were accounted for. Physically active males (N = 10) and females (N = 10) were measured for height, weight, and body mass index (BMI). Three-Tesla magnetic resonance images of their dominant and nondominant thigh and knee were then obtained to measure VOL_ACL, quadriceps, and hamstring muscle volumes, femoral notch width, and femoral notch width index. Separate three-step regressions estimated associations between VOL_QUAD and VOL_ACL (third step), after controlling for sex (first step) and one body dimension (second step). When controlling for sex and sex plus BMI, VOL_HAM, notch width, or notch width index, VOL_QUAD consistently exhibited a positive association with VOL_ACL in the dominant leg, nondominant leg, and leg-averaged models (p < 0.05). Findings were inconsistent when controlling for sex and height (p = 0.038–0.102). Once VOL_QUAD was included, only notch width and notch width index retained a statistically significant individual association with VOL_ACL (p < 0.01). Statement of Clinical Significance: The positive association between VOL_QUAD and VOL_ACL suggests ACL size may in part be modifiable. Future studies are needed to determine the extent to which an appropriate training stimulus (focused on optimizing overall lower extremity muscle mass development) can positively impact ACL size and structure in young females.