Overlap syndrome is a rare condition involving the coexistence of at least two distinct autoimmune diseases, such as systemic lupus erythematosus and systemic sclerosis. This condition has limited studies on epidemiology probably because it is often under-recognized. We present a 22-year-old Filipino female with a 10-month history of hyperpigmented patches on the malar surface and extremities, with associated photosensitivity, fatigue, pallor, arthralgia, and oral ulcers, and positive antinuclear antibody titer. She was treated with oral Prednisone in tapering doses, leading to clinical improvement. Eight months later, there was a recurrence of hyperpigmented patches on the face and extremities with skin tightening and diffuse hair loss, development of shiny skin with facial fold loss, a beak-like nasal appearance, and episodes of dyspnea and malaise. Consistent with scleroderma, the patient was started on mycophenolate mofetil (MMF) 500 mg daily, with close monitoring for disease progression and systemic involvement. Overlap syndrome remains under-recognized due to its variable presentation and rarity. Treatment is individualized based on the specific connective tissue diseases involved and the patient’s symptoms. Multidisciplinary care is crucial for timely management and to adjust treatment as needed, given the potential for life-threatening complications involving cutaneous and internal organs.

Systemic Lupus erythematosus (SLE) is a multiorgan autoimmune disease that affects 20-150 per 100,000 women. It is a mutagenic disease which causes formation of autoantibodies immune complexes that leads to inflammation in different organs leading to organ damage. We present a case of a young female who was newly diagnosed to have SLE. She presented with an elevated ANA, low C3 and elevated Anti-DS DNA. She first manifested with epistaxis and subsequently experienced the various complications of SLE such as infection, thrombosis, bleeding, ascites, etc. The initial presentation of normochromic, normocytic anemia and thrombocytopenia together with further work-ups supported another concomitant autoimmune disease, namely Evan’s syndrome. Evan’s syndrome is a rare manifestation of SLE, and is observed in only 2.73% of the population. In addition, the patient manifested with sudden onset of right-sided body weakness with Cranial CT scan findings of areas of focal infarction in the frontal lobe with concomitant acute intracranial hemorrhages. The evidence of both thrombosis and hemorrhage provided conflicting management strategies for this patient. The use of hydroxychloroquine, which is the cornerstone of lupus therapy, provided beneficial antithrombotic effects. A multidisciplinary approach to management and prudent choice of medications were vital in the success of treatment on such a complicated case.

Objective: To determine the one-year outcomes of newly-diagnosed patients with systemic lupus erythematosus (SLE) in a tertiary government hospital in Manila, Philippines. Methods: After ethics approval, we reviewed the medical records of a cohort of 44 newly-diagnosed SLE patients at 6- and 12-months post-diagnosis in 2018-2019. The outcomes of interest were: modified lupus low disease activity state as defined (mLLDAS), remission, hospitalization, 30-day readmission, organ damage, and mortality. Results: The patients were predominantly young females (mean age of 29 ± 9.9 years). There was an average interval period of six months between onset of symptoms and diagnosis (6.4 ± 10.8 months). The most common manifestations were mucocutaneous (86.4%), hematologic (63.6%), musculoskeletal (61.4%), and renal disorder (47.7%). There was at least one positive serologic test in 88.7%. Five patients (11.4%) had comorbidity, usually hypertension (9.1%). The initial lupus treatment consisted of moderate to high doses of glucocorticoids and hydroxychloroquine. Patients with life-threatening or organ-threatening disease, usually nephritis, received cyclophosphamide, azathioprine, or mycophenolate mofetil. One patient received rituximab. Fewer patients with nephritis received cyclophosphamide infusions during the first six months compared to the later six months. Most of the hospitalizations (34/36) occurred during the first six months and 22 of these were for diagnosis. Seven patients had more than one hospitalization and five (20%) had 30-day readmissions. mLLDAS was achieved by 15 (34.1%) and 30 (68.2%) patients at 6- and 12- months, respectively. Only one patient was in remission a year after diagnosis. Seven patients (15.9%) were assessed with organ damage, six (13.64%) of them at 6-months post-diagnosis. Organ damage was most commonly renal. Four (9.1%) patients died, all during their initial hospitalization. Conclusion In our population observed over a period of one year (2018-2019), there was a very low rate of remission (1/44, 2.3%), mLLDAS in 68.2%, and organ damage in 15.9%. Most of the hospitalizations (65%) were for the diagnosis of lupus and all deaths (9.1%) occurred during this first hospital confinement. We must intensify our efforts to (1) achieve earlier diagnosis, (2) deliver optimal lupus treatment and supportive care during the first lupus hospitalization, and (3) initiate early and persistent immunosuppressive treatment for nephritis to improve outcomes for our patents with SLE.
Lupus Erythematosus, Systemic ; Hospitalization ; Philippines

INTRODUCTION

Macrophage Activation Syndrome (MAS) is a rare but life threatening pro-inflammatory complication of multiple autoimmune diseases leading to cytokine storm. We report a case of MAS as a presenting manifestation of Systemic Lupus Erythematosus.

A 32-year-old female, newly diagnosed with Systemic Lupus Erythematosus (SLE), presents with a 3-month history of fever and joint pains, which began a few days after receiving her first dose of a viral vector COVID-19 vaccine. She later developed facial edema, and her fever became persistent and unremitting. Upon presentation, she was initially hypotensive, tachycardic, with distended neck veins, with periorbital edema and muffled heart sounds. Initial work-up revealed pericardial effusion, anemia, thrombocytopenia, elevated creatinine, hypoalbuminemia, hematuria, and pyuria. She was intubated, started on inotrope, and underwent pericardiocentesis. Patient was classified as SLE based on Systemic Lupus International Collaborating Clinics Classification (SLICC) Criteria despite negative antinuclear antibody (ANA). Nevertheless, she was started on IV steroids and hydroxychloroquine. She was eventually extubated after significant clinical improvement. Further work-up for MAS was however done due to persistent febrile episodes. Hyperferritinemia, hypertriglyceridemia, hypercholesterolemia, pancytopenia, transaminitis, and splenomegaly on imaging were noted. She was then started on methylprednisolone pulse therapy. After treatment, marked clinical improvement, as well as resolution of transaminitis and pancytopenia were noted.

A high index of suspicion for MAS should exist in a patient with pyrexia of unknown origin with concomitant autoimmune disease. In this disease that can lead to progressive organ failure, early diagnosis and management is crucial. This case report culminates the need for diagnostic and therapeutic guidelines that will help in the early diagnosis and immediate treatment of this debilitating condition.

Mastocytosis is a rare disorder that results from the clonal proliferation of abnormal mast cells which accumulates in the skin and extracutaneous organs. Its prevalence is estimated at 1 in 10,000 persons. Cutaneous mastocytosis occurs in less than 5% of adults while adult-onset mastocytosis is suggestive of systemic progression. Involvement of the gastrointestinal tract occurs in 14-85% of patients diagnosed with systemic mastocytosis. This case involves a 72-year-old female previously diagnosed with cutaneous mastocytosis who presented with gastrointestinal symptoms fifteen years later. Workups done included CT scan, colonoscopy, and bone marrow aspiration. Colonic and bone marrow tissue samples revealed eosinophilia with CD117 positivity. The patient was started on therapy with imatinib. No recurrence of hematochezia was observed on follow-up.

Glioblastoma multiforme (GBM) represents the most malignant form of brain tumor and is relatively common, comprising nearly almost 20% of all primary malignancies of the central nervous system1. GBM is a WHO grade IV tumor with several variants, depending primarily on their genetic signature and on the predominant histological architecture. Among the variants of GBM, epithelioid glioblastoma (E-GBM) has been one of the more recently described. This tumor, documented to be highly malignant and clinically aggressive, has been separated from close variants and thus differentials, pleomorphic anaplastic xanthoastrocytoma, rhabdoid GBM, small cell and giant cell GBM, GBM with neuroectodermal differentiation, and gliosarcoma2. Autoimmune diseases have been linked within creased risk of CNS complications, from the constant effects of chronic inflammatory milieu. Systemic lupus erythematosus (SLE) has been associated with several CNS abnormalities, hence the terms CNS lupus or neuropsychiatric lupus. Likewise, SLE has been repeatedly associated with CNS malignancies in several cases and case reports. To date, there is paucity in the reported cases of malignant brain tumors, especially rare variants, in patients with SLE. While it is hypothesized that the inflammatory milieu that bathes the brain in a dynamic microenvironment that influences the incidence of rare variants of GBM, clinicians should be mindful, as treatment is challenging: it may either induce exacerbation of autoimmunity or cause undertreatment of the malignancy. This complex interplay births curiosity into the enigma of autoimmunity and oncology. In this particular report, we highlight the case of a patient with SLE who developed E-GBM. We identify the clinicopathologic features of the tumor present in the patient and explore the known aspects of the crosstalk between SLE and E-GBM.
Lupus Erythematosus, Systemic ; Glioblastoma

Humans ; Lupus Vasculitis, Central Nervous System/pathology* ; Magnetic Resonance Imaging/methods* ; Diffusion Tensor Imaging/methods* ; Patients ; Lupus Erythematosus, Systemic/pathology* ; Brain/pathology*

Objective To evaluate the correlation between alterations in DNase1 and DNase1L3 enzyme activities and impairment of NET degradation in patients with sporadic SLE, and to investigate the underlying mechanism. Methods 46 sporadic SLE patients and 30 age- and sex-matched healthy individuals were recruited. Serum levels of DNase1, DNase1L3 and corresponding autoantibodies were detected by ELISA. DNase1 and DNase1L3 were isolated by immunoprecipitation; NETs and enzyme degradation activities were detected using a modified immunofluorescence. DNase1L3 secretion by PBMCs was analyzed by ELISPOT, Western blotting and reverse transcription PCR. Results Levels of H3-dsDNA and Ela-dsDNA complexes were significantly elevated in SLE patients. LDGs in SLE population was significantly higher than in the control group, and LDGs was positively correlated with H3-dsDNA and Ela-dsDNA NETs complexes. The ability of SLE patients to degrade NET in vitro was significantly lower than that of the control group. Degradation experiments of DNase1 and DNase1L3 in different proportions showed that the decrease in DNase1L3 activity was the primary contributor to the elevated NET residue level. The concentration of DNase1L3 autoantibodies in SLE patients was significantly elevated compared to the control group. In addition, the capacity of PBMCs to secrete DNase1L3 was significantly lower in the SLE patients compared to the control group. Conclusion Decreased secretion of DNase1L3 and the presence of relevant autoantibodies notably impede NET degradation in patients with SLE, offering new directions for the monitoring and treatment of SLE patients.
Humans ; Autoantibodies ; Blotting, Western ; Enzyme-Linked Immunosorbent Assay ; Extracellular Traps ; Lupus Erythematosus, Systemic

INTRODUCTION

Despite universal agreement on the application of antimicrobial prophylaxis, the optimum administration period of antibiotics for percutaneous nephrolithotomy (PCNL) remains controversial and the risk for antimicrobial resistance due to prolonged antibiotic use as well as financial burden that may prove to be challenging for both the patient and the physician. This study therefore aims to determine the safety and effectiveness of a single dose antibiotic prophylaxis in patients undergoing PCNL.

A randomized controlled trial was conducted in PCNL patients between 2021-2023. The patients were randomly assigned to three groups: single dose prophylaxis 30 minutes before surgery arm (Group A), 30 minutes before and 12 hours after surgery arm (Group B), and continued antibiotics until removal of nephrostomy tube arm (Group C), respectively.

A total of 81 patients were included (Group A=27, Group B=28, and Group C=26). The rate of comorbidities did not differ significantly in the three groups: HTN (p=0.166), DM (p=0.121), and Others (p=0.405). The presence of hydronephrosis was seen in 70.4% of patients. About half had solitary stone type (54.3%) and had left area affected (51.8%). Also, 14.8% had history of UTI. The patient groups did not differ in clinical and operative characteristics (all p > 0.05) except in history of previous stone surgeries. Significantly more patients had previous history of stone surgeries in Group A (37.0%) than in Group B (3.6%) and Group C (15.4%) (p=0.006). The following proportion of no growth in preoperative urine culture was observed: Group A (92.6%), Group B (89.3%), and Group C (80.8%) (p=0.174). The estimated blood loss was significantly lower in Group A (130.7ml) than in Group B (235.7ml) and Group C (261.5ml) (p=0.032). Significantly less patients in Group A were free from stone (74.1%) compared to Group B (92.9%) and Group C (96.2%) (p=0.030). After surgery, only two patients (2.5%) had criteria consistent with SIRS and both belonged in Group C. No significant difference in incidence of SIRS was observed among the three groups (p=0.067).

Single dose antibiotic prophylaxis for the prevention of post-operative bacterial infection in patients undergoing PCNL is as effective as multiple dose antibiotic prophylaxis. Consistent with existing guidelines on PCNL, single dose antibiotic prophylaxis is highly recommended as it is more cost-effective and may lower the risk for antibiotic resistance in the future. More RCTs with larger sample size which can determine the effectiveness of single dose antibiotic prophylaxis in patients at high-risk for post-operative PCNL infections are recommended.

Diffuse cutaneous Systemic Sclerosis (dsSSc) is an uncommon subtype of Scleroderma or Systemic Sclerosis (SSc), a multisystemic autoimmune disease. Philippine reports remain limited, hence there is a need to review this condition to accurately diagnose and manage Filipino patients. We present the case of a 52-year old Filipino female with a one-year history of pruritus and generalized skin thickening presenting as multiple, well-defined, hyperpigmented patches and plaques. She also presented with systemic symptoms like fever, dysphagia, and finger tenderness, swelling, numbness, and color changes upon exposure to extreme temperatures known as Raynaud’s Phenomenon. Clinical findings, alongside dermoscopic, histopathologic, nail capillaroscopy, and diagnostic data, confirmed dsSSc diagnosis with complications like Barrett’s Esophagus and Interstitial Lung Disease. Treatment options include corticosteroids, emollients, immunosuppressants, biologics, and phototherapy. Multidisciplinary teams are essential to address systemic complications.