Unusual case of pernicious anaemia masquerading as thrombotic thrombocytopenic purpura in the setting of multiple normal vitamin B12 deficiency parameters: preventing anchoring and overdiagnosis.

BACKGROUND: Pseudo-thrombotic microangiopathy (pseudo- thrombotic microangiopathy (TMA)) is a rare presentation of B12 deficiency. Overlapping features like elevated LDH/total bilirubin with low haemoglobin/haptoglobin/platelets could deceivingly suggest thrombotic thrombocytopenic purpura (TTP) resulting in avoidable procedures/treatments. CASE PRESENTATION: A 36-year-old female with hypothyroidism initially presented to clinic with fatigue, palpitations, lightheadedness, and dyspnoea over a 3-month duration and was found to have a haemoglobin of 5.7 g/dL. She received two packed red blood cell units in the emergency room and subsequently discharged with outpatient follow-up and empiric oral iron. During her follow-up visit, she was found to have easy bruisability, gum bleeding, and generalized weakness from hemolytic anaemia (mean corpuscular volume (MCV) 90 fL, haptoglobin <8 mg/dL, LDH >4,000 U/L and schistocytosis on CBC) and thrombocytopenia of 52 K/uL. Due to PLASMIC score of 6 and suspicion for TTP, she was transferred to our facility and tr eated with three cycles of plasma exchange and prednisone but were discontinued when ADAMTS13 levels returned normal. While the patient had normal B12 levels, further testing revealed positive intrinsic factor antibodies (IF-Ab) and an elevated MMA level of 1.56 umol/L. Replacement with cobalamin led to normalization of labs and symptoms. CONCLUSIONS: Timely diagnosis of pseudo-TMA was exceptionally challenging due to several overlapping features with TTP including normal B12 and normal MCV. B12 levels may falsely appear normal in pernicious anemia due to IF-Ab interference with chemiluminescent immunoassay. Schistocytes lower the MCV in automated cell counters. Lower reticulocyte index (<2%), presence of immature/large platelets and teardrop cells, elevated MMA and a higher LDH (>2500) are indicative of B12 deficiency.

Impact of Cardiac Implantable Electronic Devices on Cost and Length of Stay in Patients With Surgical Aortic Valve Replacement and Transcutaneous Aortic Valve Implantation.

Surgical aortic valve replacement (SAVR) and transcatheter aortic valve implantation (TAVI) in aortic stenosis are associated with arrhythmic complications that can require cardiac implantable electronic device (CIED) implantation, but impact on healthcare-associated cost (HAC) and length of stay (LOS) are unknown. This study aimed to assess differences among SAVR/TAVI patients with CIED implantation on HAC and LOS. Patients hospitalized for SAVR or TAVI between 2011 and 2017 on the National Inpatient Sample database were identified and stratified according to presence/type of CIED implantation. During this period, 95,262 patients were identified; 6,435 (6.8%) patients received CIED (median [interquartile range] age: 74.0 [66.0 to 82.0] years). The median adjusted HAC was $44,271 and LOS was 6 days. CIED implantation was associated with longer LOS and higher adjusted HAC in patients with SAVR and TAVI (p <0.0001). Patients with in-hospital death and complications because of SAVR or TAVI had longer preceding in-hospital days of admission. Male patients admitted to small hospitals and the West region had the highest HAC. In conclusion, CIED implantation for arrhythmias results in higher HAC and longer LOS in patients with aortic stenosis for both SAVR and TAVI.

Myocardial infarct size and sex-related angiographic differences in myocardial infarction in nonobstructive coronary artery disease.

BACKGROUND: Myocardial infarction in nonobstructive coronary artery disease (MINOCA) is a recently described infarct subtype. There are few studies that examine coronary artery disease (CAD) extent, MI size and type, and treatment differences at hospital discharge compared to myocardial infarction in obstructive coronary artery disease (MICAD), or that explore sex-specific MINOCA attributes of coronary anatomy and infarct size. METHODS: Our study population consisted of a single tertiary-center of consecutive patients that had coronary angiography for acute MI between 2005 and 2015. The MI type at presentation, MI size and ejection fraction (post-MI), and gender differences between MINOCA patients were examined. RESULT: Among 1698 cases with acute MI, 95 had MINOCA (5.6%). MINOCA patients were younger, more often had NSTEMI, lower peak cardiac troponin (cTn) values, and greater ejection fraction than MICAD patients (all P-values <0.005). At hospital discharge, 30-day re-admission rates were similar. MINOCA patients less frequently received optimal medical therapy. When women were analyzed, the 45 women with MINOCA had smaller MIs (P < 0.001) and greater ejection fraction (P = 0.002) than the 358 women with MICAD. Sex comparisons of the 95 MINOCA patients revealed women were older than men (P < 0.001), had lower mean peak cTn values (P < 0.001), greater ejection fraction (P = 0.02), and more single-vessel disease involvement than men (P < 0.0001). CONCLUSION: The average MI size is smaller in MINOCA than MICAD patients, and there are sex-related differences in clinical presentation, coronary artery disease extent, and MI size. Re-admission rates are similar and MINOCA patients are less likely to receive guideline recommended medical therapy at discharge.

Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Background Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related death. SUDEP shares many features with sudden cardiac death and sudden unexplained death in the young and may have a similar genetic contribution. We aim to systematically review the literature on the genetics of SUDEP. Methods and Results PubMed, MEDLINE Epub Ahead of Print, Ovid Medline In-Process & Other Non-Indexed Citations, MEDLINE, EMBASE, Cochrane Database of Systematic Reviews, and Scopus were searched through April 4, 2017. English language human studies analyzing SUDEP for known sudden death, ion channel and arrhythmia-related pathogenic variants, novel variant discovery, and copy number variant analyses were included. Aggregate descriptive statistics were generated; data were insufficient for meta-analysis. A total of 8 studies with 161 unique individuals were included; mean was age 29.0 (±SD 14.2) years; 61% males; ECG data were reported in 7.5% of cases; 50.7% were found prone and 58% of deaths were nocturnal. Cause included all types of epilepsy. Antemortem diagnosis of Dravet syndrome and autism (with duplication of chromosome 15) was associated with 11% and 9% of cases. The most frequently detected known pathogenic variants at postmortem were in Na+ and K+ ion channel subunits, as were novel potentially pathogenic variants (11%). Overall, the majority of variants were of unknown significance. Analysis of copy number variant was insignificant. Conclusions SUDEP case adjudication and evaluation remains limited largely because of crucial missing data such as ECGs. The most frequent pathogenic/likely pathogenic variants identified by molecular autopsy are in ion channel or arrhythmia-related genes, with an ≈11% discovery rate. Comprehensive postmortem examination should include examination of the heart and brain by specialized pathologists and blood storage.

Fahr's Disease: A Differential to Be Considered for Various Neuropsychiatric Presentations.

Fahr's disease, also known as familial idiopathic basal ganglia calcification, is a neurodegenerative disorder affecting cerebral microvessels, mainly the basal ganglia, and presenting with diverse neuropsychiatric manifestations. It is considered to be mainly hereditary, with autosomal dominant inheritance. In light of its various presentations and incomplete penetrance, Fahr's disease is known to be underestimated and underdiagnosed. Here, an early-onset case of Fahr's disease is presented mainly with pure psychiatric symptoms. Given the diversity of the presenting symptoms, and variations in the age of onset, further investigation of organic etiologies in patients presenting with neuropsychiatric symptoms, family members of patients with Fahr's disease, and patients with unexplained cerebral calcification is recommended.

Adnexal masses in pregnancy: An updated review.

Adnexal masses in pregnancy are not commonly encountered. The majority of these masses are discovered incidentally during routine follow-up. However, some of these masses become symptomatic due to their size, location, and impingement of adjacent structures. Several diagnostic modalities can be utilized for the detection of adnexal masses with different sensitivity and specificity rates. The differential diagnosis of adnexal masses discovered during pregnancy is broad and includes both benign and malignant lesions. The management of such lesions has been a subject of debate for years with no consensus regarding the best management plan. Tumor size, site, and the trimester of mass detection are all crucial in management. In this account, we review adnexal masses discovered in pregnancy, the diagnostic modalities utilized for detecting these lesions, their differential diagnosis, and management strategies.

Simple Renal Cysts as Markers of Thoracic Aortic Disease.

BACKGROUND: Thoracic aortic aneurysm is usually a clinically silent disease; timely detection is largely dependent upon identification of clinical markers of thoracic aortic disease (TAD); (bicuspid aortic valve, intracranial aortic aneurysm, bovine aortic arch, or positive family history). Recently, an association of simple renal cysts (SRC) with abdominal aortic aneurysm and aortic dissection was established. The aim of our study was to evaluate the prevalence of SRC in patients with TAD in order to assess whether the presence of SRC can be used as a predictor of TAD. METHODS AND RESULTS: We evaluated the prevalence of SRC in 842 patients with TAD (64.0% males) treated at our institution from 2004 to 2013 and compared to a control group of patients (n=543; 56.2% males). Patients were divided into 4 groups: ascending aortic aneurysm (456; 54.2%); descending aortic aneurysm (86; 10.2%); type A aortic dissection (118; 14.0%); and type B aortic dissection (182; 21.6%). SRC were identified by abdominal computed tomography or magnetic resonance imaging of these patients. Prevalence of SRC is 37.5%, 57.0%, 44.1%, and 47.3% for patients with ascending aneurysm, descending aneurysm, type A dissection, and type B dissection, respectively. Prevalence of SRC in the control group was 15.3%. Prevalence of SRC was not significantly different between male and female aortic disease patients, despite reported general male predominance (2:1), which was also observed in our control group (1.7:1). CONCLUSIONS: This study establishes an increased prevalence of SRC in patients with TAD. SRC can potentially be used as a marker for timely detection of patients at risk of TAD.

Current Experience With Acute Type B Aortic Dissection: Validity of the Complication-Specific Approach in the Present Era.

BACKGROUND: Our group proposed in 1992 a "complication-specific approach" for the management of acute aortic dissection type B (TBAD), with uncomplicated cases being treated with medical therapy. In this study, we evaluate the efficacy of this management in in-hospital and postdischarge survival. METHODS: Between 1999 and 2014, 123 consecutive acute TBAD patients were treated at our institution. We compared complicated (rupture/impending rupture, malperfusion, expansion) vs uncomplicated TBAD, as well as TBAD with a dissection flap vs intramural hematoma/penetrating aortic ulcer. RESULTS: A total of 103 patients (84%) were strictly managed according to the complication-specific approach, with 93% in-hospital survival. Twenty deviated from complication-specific approach management (triaged to operation by complication-specific approach, but inoperable for a variety of reasons). Independent risk factors for a complicated course in the dissection flap subgroup (n = 89) were history of coronary artery disease (odds ratio. 3.139; p = 0.04) and maximum aortic diameter exceeding 5 cm (odds ratio, 4.586; p = 0.005). Uncomplicated patients were treated medically with antiimpulse therapy. Among the 103 patients treated with the complication-specific approach, long-term survival was 83%, 78%, 71% and 47% at 1, 3, 5, and 10 years, respectively. Between the uncomplicated and complicated groups, 8-year survival was 55% and 49%, respectively (log-rank p = 0.03). Uncomplicated patients showed comparable 6-year survival (log-rank p = 0.06) to matched normal population controls. CONCLUSIONS: Patients managed with the complication-specific approach showed an overall satisfactory long-term survival over 10 years. No in-hospital deaths occurred in patients with uncomplicated, medically treated acute TBAD, with comparable long-term survival to a matched normal population. These good long-term results provide counterbalancing perspective when considering routine thoracic endovascular aortic repair for all TBAD patients.

Complex cardiac pacing in the setting of a district general hospital: procedural success and complications.

BACKGROUND AND PURPOSE: Complex cardiac pacing with either an implantable cardiovertor defibrillator (ICD) or a biventricular pacemaker with pacing only (CRT-P) or biventricular pacemaker with implantable cardiovertor defibrillator (CRT-D) plays an important role in the management of patients with heart failure. However, device implantation is associated with rare but significant complications which may limit the number of centres offering this treatment. The aim of this study is to define procedural success and complication rates associated with implantation of complex implantable cardiac devices in a district general hospital. METHODS AND SUBJECTS: The pacing records of all the patients who underwent complex cardiac pacing (ICD, CRT-P and CRT-D) between January 2010 and December 2011 were reviewed. Information on clinical characteristics, pacing indications, venous access, implantation data, lead stability at follow-up, and procedure-related complications were obtained. RESULTS: A total of 151 devices (60 CRT-Ds, 55 CRT-Ps and 36 ICDs), were implanted between January 2010 and December 2011 with a median follow-up of 12 months. Overall transvenous procedural success rate was 99.3%. 14 (9.3%) out of the 151 patients suffered a complication. There were no procedure-related deaths, and lead displacement (5.3%) was the most common complication. Other complications included pocket haematoma and phrenic nerve stimulation (1.3% and 3.4%, respectively). There were no cases of pneumothorax, cardiac tamponade, device-related infection, symptomatic venous thrombosis and stroke. Lead thresholds, in particular that of the left ventricular lead, remained stable during the follow-up period indicating persistent delivery of cardiac resynchronisation therapy in the group receiving CRT systems. CONCLUSIONS: In the presence of necessary clinical expertise, complex cardiac devices can be implanted successfully and with a high degree of safety in the setting of a district general hospital.