Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome

Objective To summarise the clinical and genetic characteristics of three children with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. Methods This study retrospectively analysed the clinical and genetic data of three children with PAMI syndrome in our hospital between April 2018 and January 2020. Results One male and two female children were 6 years and 5 months, 8 years and 7 months, and 13 years and 3 months of age. All three patients had a recurrent blood trilineage hypoplasia and splenomegaly. Patient 1 had pyoderma gangrenosum, and Ludwig’s angina. Patient 2 had pyogenic arthritis, and pyoderma gangrenosum. Patient 3 had hepatomegaly, pyogenic arthritis, and pulmonary hypertension. Laboratory tests revealed that all three children had elevated C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Patient 1: C-antineutrophilic cytoplasmic antibodies(c-ANCA), positive; antiglobulin test (Coombs), positive. Patient 2: blood zinc, 4.38 mg/L (elevated). Patient 3: Antinuclear antibodies (ANA), 1:100, β2 glycoprotein I, positive; Coombs test, positive; RF, 28.3 U/ml (elevated); C3, 0.77 g/L (decreased). Genetic testing showed that all 3 patients had PSTPIP1 c.748G > A (p.E250K) spontaneous heterozygous mutations, suggesting the diagnosis of PAMI syndrome. Patient 1 was treated with a combination of methylprednisolone and cyclosporine for 8 months. The patient did not develop new skin lesions. The blood count showed mild neutropenia. The spleen was considerably retracted and the CRP became normal. Patient 2 was treated with etanercept and methylprednisolone. The patient had no further arthralgias and pyoderma gangrenosum showed improvement. The spleen was smaller than before. White blood cells were shown to be approximately 2–3 × 109/L. The haematocrit, platelets, CRP, and AESR were normal. Patient 3 was treated with methylprednisolone, methotrexate, and infliximab 4 times. The patient’s joint symptoms disappeared gradually and the liver retracted markedly. The pulmonary artery pressure returned to normal. Moreover, Coombs test result was negative. CRP and AESR were lower than before. Conclusion PAMI syndrome can manifest as pyogenic arthritis, pyoderma gangrenosum, acne, and trilineage hypoplasia, as well as autoimmune diseases. Glucocorticoid and immunosuppressive therapy are partially effective and cytokine antagonists can be used in refractory cases. Whole-exome genetic testing is helpful to confirm diagnosis.

Therapeutic Approaches for the No-Option Refractory Angina Patient

The combination of an aging population and improved survival rates among patients with coronary artery disease has resulted in an increase in the number of patients with refractory angina or anginal equivalent symptoms despite maximal medical therapy. Patients with refractory angina are often referred to the cardiac catheterization laboratory; however, they have often exhausted conventional revascularization options; thus, this population is often deemed as having “no options.” We review the definition, prevalence, outcomes, therapeutic options, and treatment considerations for no-option refractory angina patients and focus on novel therapies for this complex and challenging population. We propose a multidisciplinary team approach for the evaluation and management of patients with refractory angina, ideally in a designated clinic. The severe limitations and symptomatology experienced by these patients highlight the need for additional research into the development of innovative treatments.

Transient contrast induced neurotoxicity after coronary angiography: A contrast re-challenge case

Contrast induced neurotoxicity (CIN) is a rare complication of cardiac catheterization and re-exposure to contrast medium carries the risk of recurrent CIN. We report a case of successful contrast re-challenge in a 60-year-old female patient who developed CIN after her first procedure of coronary angiography (CAG) which resulted in symptoms of disorientation, amnesia and cortical blindness. A non-contrast enhanced CT performed four hours after the CAG was normal, however, her MRI brain scan showed scattered tiny hyper intensities in posterior occipito-temporal and parietal regions suggesting CIN. Patient’s symptoms resolved completely after 72 hours. Two months later, because of persistent exertional angina, patient was successfully re-challenged with lesser amount of contrast medium with administration of hydrocortisone prior to procedure, and PCI to LAD was completed without recurrence of CIN. doi: https://doi.org/10.12669/pjms.36.5.2688 How to cite this:Sadiq MA, Al Habsi MS, Nadar SK, Shaikh MM, BaOmar HA. Transient contrast induced neurotoxicity after coronary angiography: A contrast re-challenge case. Pak J Med Sci. 2020;36(5):---------. doi: https://doi.org/10.12669/pjms.36.5.2688 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

PERBEDAAN KADAR PROLYLCARBOXYPEPTIDASE DI PASIEN SINDROM KORONER AKUT DENGAN PASIEN ANGINA STABIL (The Difference of Prolylcarboxypeptidase Level in Acute Coronary Syndrom and Stable Angina Patient)

Coronary arterial disease (CAD) is the main cause of mortality across many countries throughout the world. Formation ofatherosclerosis plaque is the early cause for cardiovascular dysfunction in CAD. Detecting of atherosclerosis plaque instability is veryimportant to predict the risk of acute coronary syndrome (ACS). Various biomarkers have been studied to find the good marker fordetecting atherosclerosis and its instability, but until now there is no biomarker meet the requirements to be used in routine clinicaltests. Prolylcarboxypeptidase (PRCP) is the alternative parameter in the detection of atherosclerosis, assessing the degree of its plaqueand instability in CAD patients. The benefits of PRCP level test in serum, compared to angiography that is currently used in the detectionof atherosclerosis plaque is that this test is non-invasive, provides quantitative level information, able to estimate the instability of theplaque and the fact that it is a laboratorial test that can be performed in hospitals with less advance facilities. The aim of this study isto know the different PRCP level between ACS and stable angina patients by determination. This study was held in the period betweenMarch–May 2014, in Rumah Sakit dr. Hasan Sadikin Bandung. The subjects were selected on the basis of consecutive sampling onpatients that are presented in the Emergency Departement and Cardiovascular Clinic. From 88 patients consisted of 44 patients withACS and 44 patients with stable angina, were tested for PRCP level in the serum using the ELISA sandwich method. This study wascarried out by observational design with cross sectional method. The statistical analysis uses the Saphiro Wilk data normality test,Mann Whitney test and Kruskal Wallis test. There was no characteristic difference between the two groups. This research identifiedsignificant difference of PRCP level between the ACS group and stable angina (P=0.005). Prolylcarboxy peptidase level in the ACS group(156,3×102 pg/mL) is higher compared to the stable angina (143.8×102pg/mL). PRCP level test hopefully can be recommended asone of the laboratorycal parameter in measuring the degree and instability of atherosclerosis plaque, in the absence of angiography orintravascular ultrasonography test facility.