Deficiency of adenosine deaminase 2 leading to recurrent Hodgkin lymphoma: A case report.

Deficiency of adenosine deaminase 2 is a rare monogenic multi-organ disease of children and less often adults resulting from mutations in the adenosine deaminase 2 gene. We present a case of a 35-year-old Palestinian male with adenosine deaminase 2 deficiency and maturity-onset diabetes of the young type 2. The patient initially presented with complaints of swelling in his neck and night sweats, leading to a diagnosis of Hodgkin lymphoma. Subsequent evaluation revealed a recurrence of Hodgkin lymphoma, along with symptoms of otitis media, upper respiratory tract infection, and a rash around the mouth. Genetic testing confirmed mutations in the adenosine deaminase 2 gene and glucokinase genes, confirming the diagnosis of deficiency of adenosine deaminase 2 and maturity-onset diabetes of the young type 2, respectively. The patient was treated with Intravenous immunoglobulin, antiviral drugs, and oral hypoglycemic drugs, showing improvement in symptoms and laboratory tests. This case highlights the importance of considering rare genetic disorders in patients with unusual or refractory clinical manifestations, and the need for a multidisciplinary approach in such cases.

Rheumatoid Arthritis With Focal Segmental Glomerulosclerosis: A Case Report and Literature Review.

Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease primarily affecting the joints and, to a lesser extent, other systems. Renal involvement in RA is rare and might be due to the presence of systemic inflammation or the toxic effect of the medications used. Of the many types of renal diseases that can affect RA patients, focal segmental glomerulosclerosis (FSGS) is rarely encountered. In this report, we present a rare co-existence of RA and FSGS in a 50-year-old female with RA who was found to have FSGS as a possible cause of proteinuria and an extraarticular manifestation of RA. The patient's RA started as palindromic rheumatism, which progressed later to chronic symmetrical polyarthritis of the small and large joints. Along with the flare of her joint disease, she was found to have lower limb edema. Her workup showed persistent proteinuria of more than one gram per day. Renal biopsy showed unexpected findings of FSGS. Our patient was treated with tapering doses of steroids, methotrexate, candesartan, and a diuretic that controlled joint disease, blood pressure, and proteinuria. Follow-up at two years showed normal kidney function tests, a significant decline in proteinuria, and controlled joint disease. Our case portrays a possible relationship between FSGS as a cause of proteinuria in patients with RA. Physicians should be aware of the possibility of FSGS in RA patients, which can affect the management plan, medication efficacy, and overall prognosis.

Familial Mediterranean fever with pseudo-septic arthritis: A case report and review of the literature.

Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease resulting from mutations of the MEFV gene. The disease is characterised by recurrent attacks of abdominal pain and fever. Most FMF patients develop arthritis at some point in their life usually manifesting as self-limiting monoarthritis. On very rare occasions, arthritis in FMF can mimic septic arthritis (pseudo-septic arthritis) with very similar clinical and laboratory findings. We report a case of a young male patient who presented with recurrent attacks of prolonged monoarthritis. For 2 years, he had undergone multiple admissions and operations for drainage of suspected septic joints. The synovial aspiration showed culture-negative pus with very high synovial white blood cell counts highly suggestive of septic arthritis. The patient was later found to have FMF based on homozygous M694V mutation of the MEFV gene. He was treated with colchicine monotherapy with a quick improvement of arthritis and later good control of his disease. The literature review showed very few case reports with similar presentations, most of which responded well to colchicine. FMF can mimic septic arthritis resulting in unnecessary expensive and invasive interventions and prolonged courses of antibiotics. Pseudo-septic arthritis is usually associated with M694V homozygous mutation and can complicate FMF at any time throughout the disease course. It is important to consider FMF in the differential diagnosis of septic arthritis, particularly with a family history of FMF and in patients from communities with a high prevalence of MEFV gene mutation.

Shrinking Lung Syndrome in a Systemic Lupus Erythematous Patient Improved by Rituximab: A Case Report With Literature Review.

Shrinking lung syndrome (SLS) is a rare complication of autoimmune and connective tissue diseases like systemic lupus erythematosus (SLE). A 35-year-old female patient, diagnosed with SLE, came to the hospital complaining of severe dyspnea and pleuritic pain for several months that was worsening on exertion. Imaging (X-ray and CT scan) of the chest at the time of presentation showed bilateral basal atelectasis with elevated diaphragm. Pulmonary function test (PFT) showed restrictive findings including forced expiratory volume in the first second (FEV1) of 37%, total lung capacity of 40%, and vital capacity of 32% predicted with a restrictive pattern on flow volume loop confirming the diagnosis of SLS. The treatment focused on methotrexate and rituximab. Patients with a known history of SLE who start respiratory symptoms like cough and dyspnea should be ruled out of SLS at the earliest as it can be deadly in the later stages.

Rate of secondary HLH and performance of H-score in patients with severe COVID-19.

BACKGROUND: Severe COVID-19 is thought to be caused by immune overdrive and cytokine storm. One of the cytokine storm syndromes frequently induced by infections is secondary hemophagocytic lymphohistiocytosis (HLH) which can be assessed using H-score. In this study, we aimed to evaluate the rate of patients with COVID-19 who meet HLH criteria based on H-score and the association of H-score with poor outcomes. METHODS: In a prospective cohort study of 19 patients with COVID-19 requiring ICU stay from March to May, 2020, we collected demographic and clinical data that focused on H-score's variables and COVID-19 outcomes. H-score ≥ 169 was used to determine the percentage of patients who met the HLH criteria. Mann-Whitney, Kruskal-Wallis, and Spearman rho tests and multiple regression analyses were carried out to evaluate the associated factors. The optimal H-score cut-off to predict poor COVID-19 outcome (need for intubation ± ECMO) was determined using receiver operating characteristic (ROC) analysis. RESULTS: In 669 patients with severe COVID-19 with a mean ± SD age of 50.3 ± 12.8 years, which comprised 95% men; 66% required intubation, 4% ECMO, and 16% died. Only 2% had an H-score ≥ 169. Patients with poor outcomes had a higher mean (SD) H-score than those without; intubation (96.0 [50.0] vs 75.0 [35.0], p < 0.01), ECMO (113.0 [25.0] vs 93.0 [50.0], p < 0.01) and death (98.0 [62.0] vs 93.0 [48.0], p < 0.01). Factors associated with H-score were diabetes (ß coeff = - 10.4, p < 0.01), abdominal pain (ß coeff = 19.1, p < 0.01), duration of COVID-19 symptoms (ß coeff = - 0.7, p = 0.049), and days before ICU admission (ß coeff = - 1.2, p = 0.01). H-score showed a fair ability to discriminate COVID-19 outcomes (AUC 0.61, 95% CI 0.54-0.67). An H-score of 85 was the optimal cut-off with a sensitivity 69% and 1-specificity 53%. CONCLUSION: Despite its association with severity in COVID-19, H-score's ability to predict poor outcomes was only fair, indicating differences in the cytokine storm faced in COVID-19 compared with that during secondary HLH.

Hypertension as an Unusual Cause of Proliferative Retinopathy: Case Report and Literature Review.

Malignant hypertensive retinopathy is associated with characteristic fundus findings that typically do not include proliferative retinal vascular changes. We present the case of a 34-year-old patient who had bilateral decreased vision and was found to have malignant hypertension with hypertensive retinopathy changes along with unforeseen bilateral neovascularization and vitreous hemorrhage. Detailed history and extensive systemic and ophthalmic workup failed to reveal an alternative explanation for her proliferative retinopathy. Blood pressure control and panretinal photocoagulation halted further deterioration. Malignant hypertensive retinopathy can rarely cause profound retinal ischemia leading to retinal neovascularization. This case further supports the presence of "proliferative hypertensive retinopathy" that needs to be identified and addressed urgently through collaboration between internists and ophthalmologists.

Clinical utility of ANA-ELISA vs ANA-immunofluorescence in connective tissue diseases.

We investigated the performance of ANA-ELISA for CTDs screening and diagnosis and comparing it to the conventional ANA-IIF. ANA-ELISA is a solid-phase immune assay includes 17 ANA-targeted recombinant antigens; dsDNA, Sm-D, Rib-P, PCNA, U1-RNP (70, A, C), SS-A/Ro (52 and 60), SS-B/La, Centromere B, Scl-70, Fibrillarin, RNA Polymerase III, Jo-1, Mi-2, and PM-Scl. During the period between March till December 2016 all requests for ANA from primary, secondary, and tertiary care centers were processed with both techniques; ANA-IIF and ANA-ELISA. The electronic medical record of these patients was reviewed looking for CTD diagnosis documented by the Senior rheumatologist. SPSS 22 is used for analysis. Between March and December 2016, a total of 12,439 ANA tests were requested. 1457 patients were assessed by the rheumatologist and included in the analysis. At a cut-off ratio ≥ 1.0 for ANA-ELISA and a dilutional titre ≥ 1:80 for ANA-IIF, the sensitivity of ANA-IIF and ANA-ELISA for all CTDs were 63.3% vs 74.8% respectively. For the SLE it was 64.3% vs 76.9%, Sjogren's Syndrome was 50% vs 76.9% respectively. The overall specificity of ANA-ELISA was 89.05%, which was slightly better than ANA-IIF 86.72%. The clinical performance of ANA-ELISA for CTDs screening showed better sensitivity and specificity as compared to the conventional ANA-IIF in our cohort.

Chronic Headache and Cerebral Venous Sinus Thrombosis Due to Varicella Zoster Virus Infection: A Case Report and Review of the Literature.

BACKGROUND Varicella zoster virus (VZV) infection causes 2 clinically distinct forms of the disease: varicella (chickenpox) and herpes zoster (shingles). Primary VZV infection results in the diffuse vesicular rash of varicella, or chickenpox. Endogenous reactivation of latent VZV typically results in a localized skin infection known as herpes zoster, or shingles. The infection usually manifests as a self-limited disease. However, it can be associated with various neurological complications such as encephalitis, meningitis, ventriculitis, cerebellar ataxia, ischemic or hemorrhagic, and, rarely, cerebral venous sinus thrombosis (CVST). This report presents a case of cerebral venous sinus thrombosis due to varicella zoster virus infection in a 20-year-old Nepalese man who presented to the Emergency Department with headache. CASE REPORT A 20-year-old Nepalese male patient presented to the Emergency Department with headache of 10 day's duration. Five days prior to that, he had a diffuse pruritic skin rash. Examination as well as serology confirmed the presence of primary varicella infection. Computed tomography (CT) and magnetic resonance venography (MRV) demonstrated CVST. Thrombophilia workup revealed a transient elevation of antiphospholipid serology. Shortly after admission, the patient had a transient seizure. He was treated with acyclovir, levetiracetam, and anticoagulation. A comprehensive literature review of similar cases was performed to establish a link between thrombotic complications and primary VZV infection and to formulate possible mechanistic pathways. CONCLUSIONS This report shows that primary VSV infection can be associated with vasculopathy and CVST. Physicians should recognize this serious complication, which should be diagnosed and treated without delay.

An unusual cause of reactive arthritis with urticarial: A case report.

Reactive arthritis (ReA) is a syndrome of arthritis and tenosynovitis with defined extra-articular manifestations following certain infections. Despite being recognized a long time ago, debates still surrounds its definition. It is still unclear if the spectrum of the disease should include arthritis induced by other than the classical organisms. Here, we present an unusual cause of ReA. A young healthy female patient presented with acute polyarthritis and acute urticaria after 2 weeks of diarrheal illness. She was found to have blastocystis in the stool microscopy. Extensive evaluation ruled out other causes of her arthritis. She received metronidazole with a short course of NSAIDS and steroids with complete resolution of her skin and joint symptoms. She was followed for six months with no recurrence of arthritis or urticaria. Blastocystis sp. is a parasite that is prevalent in developing countries. It has been linked to isolated ReA or isolated urticaria among a few other case reports. This is the very first case to have blastocystis induced ReA that coexisted with acute urticaria. Upon review of the literature, we found that blastocystis induced ReA affects mainly young and middle-aged females such as in our case. The arthritis is usually settled with the parasite eradication. Finally, urticaria might be a distinguishing feature for blastocystis induced ReA that requires specific antimicrobial therapy.

Asthma knowledge, care, and outcome during pregnancy: The QAKCOP study.

Asthma is the most common chronic medical condition affecting pregnancy. Optimizing asthma management in pregnancy is paramount for the well-being of both the mother and the baby. The primary objectives of this study were to assess patient's knowledge about asthma, the level of asthma care, and fetal and maternal outcomes among pregnant asthmatic women in this wealthy country with tremendous improvement in maternal and fetal health care. The secondary objective was to identify barriers to asthma control. This was a cross-sectional, face-to-face, prospective study of 80 pregnant women with physician-diagnosed asthma. About 56% of patients reported worsening of their asthma control during pregnancy, of which 52.3% felt this worsening in the third trimester. About 65% of patients had uncontrolled asthma during their pregnancy, and inhaler technique was incorrect in 64.4%. Only 38% of patients knew the difference between controller and reliever asthma medications, 12.7% of patients had received written asthma action plan, 17% had a spirometry done in the previous 5 years, and 3.8% had peak expiratory flow meter at home. The main reasons for uncontrolled asthma were lack of knowledge about right asthma medications in 30% and fear of side effects of inhaled corticosteroids in 19% of patients. No financial reason was reported. Significant associations between total number of pregnancies, poor perception of asthma medications, asthma exacerbation during delivery and poor asthma control were observed. Preeclampsia and congenital anomalies occurred at higher rates than previously reported among general population in this country. The tremendous improvements in maternal health care and socioeconomic status do not seem to be a barrier to the globally recognized poor asthma care in pregnancy. Important strategies are much needed.

Massive Pulmonary Embolism as the Initial Presentation of Acromegaly: Is Acromegaly a Hypercoagulable Condition?

BACKGROUND The clinical presentation in acromegaly is usually insidious, with headaches or visual disturbances being the most common symptoms. Previous studies have shown higher fibrinogen levels, lower protein C and S activity values, and enhanced platelet function in patients with acromegaly compared to a normal population. Nevertheless, the link between hypercoagulability and acromegaly is often overlooked and rarely reported in the literature. CASE REPORT We report a case of a young man with a massive pulmonary embolism as the initial presentation of acromegaly. Extensive workup excluded other causes of thrombophilia. Furthermore, the diagnosis of acromegaly was confirmed by the patient's clinical features as well as laboratory and radiological testing. A literature review on the link between hypercoagulability and acromegaly was performed. CONCLUSIONS This case report shed light on hypercoagulability as an under-recognized serious complication of acromegaly and paves the road for future studies on this topic.

Errors in Aerosol Inhaler Use and Their Effects on Maternal and Fetal Outcomes among Pregnant Asthmatic Women (Subanalysis from QAKCOP Study).

Data on inhaler technique and its effects on maternal and fetal outcomes during pregnancy are seldom reported. The primary objective of this study was to evaluate inhaler technique and identify errors in inhaler use among pregnant women with asthma. Secondary objectives were to identify factors associated with poor inhaler technique and study the association between inhaler technique and maternal and fetal outcomes. This was a cross-sectional, face-to-face, prospective study of 80 pregnant women with physician-diagnosed asthma. Seventy-three and 41 asthmatic pregnant women reported using pressurized metered dose inhalers (pMDIs) and dry powder inhalers (DPIs), respectively. Overall, wrong inhaler technique was observed in 47 (64.4%) subjects. Among pMDI users, correct inhaler use was observed in only 26/73 (35.6%) of the patients, with lack of coordination between inhalation and generation of the aerosol and failure to breathe out gently before using the inhaler, being the most common errors. Among DPI users, 21 (51.2%) demonstrated correct inhaler use, with failure to perform a breath-hold for 10 seconds after inhaling the powder and to exhale gently before using the inhaler being the most common errors. Significant associations between inhaler technique and patient's understanding of asthma medications and the kind of follow-up clinic (respiratory versus nonrespiratory clinic) were found. No significant associations between inhaler technique and various maternal and fetal outcomes or asthma control were found. In conclusion, improper inhalation technique is significantly prevalent in pregnant asthmatic women, particularly among those being followed in nonspecialized respiratory clinics. The lack of significant association between the inhaler technique and asthma control (and hence maternal and fetal outcomes) may simply reflect the high prevalence of uncontrolled asthma and significant contribution of other barriers to poor asthma control in the current patient's cohort. Multidisciplinary management of asthma during pregnancy with particular emphasis on patient's education is imperative.

Seropositive Rheumatoid Arthritis with Very Unusual X-ray Findings.

We described the case of a 23-year-old Nepalese man with seropositive rheumatoid arthritis and abnormal x-ray findings, found to be due to a very rare bone disease: Camurati Engelmann disease or progressive diaphyseal dysplasia (PDD). This is the first case reported in the Gulf area, although approximately 300 cases have been described worldwide. These patients usually present with limb pain and easy fatigability. Our patient first presented with bilateral, symmetrical inflammatory polyarthritis involving the knees, ankles and wrists but sparing the hands and feet. The diagnosis of PDD in our case was based on the classic radiological findings and a bone scan. LEARNING POINTS: Rheumatoid arthritis is a common condition with typical radiological findings.Any unusual radiological finding should be carefully assessed and explained.In our case the unusual findings were due to progressive diaphyseal dysplasia.