Year 2015
Journal PloS one
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AIMS: Gestational diabetes mellitus (GDM) is a prevalent and potentially serious condition which may put both mothers and neonates at risk. The current recommendation for diagnosis is the oral glucose tolerance test (OGTT). This study aimed to determine the usefulness of HbA1c test as a diagnostic tool for GDM as compared to the traditional criteria based on the OGTT. METHODS: This was a diagnostic test accuracy study. We performed OGTT and HbA1c test in women attending prenatal visits at a tertiary hospital. GDM was defined according to WHO1999 or ADA/WHO 2013 criteria. ROC curve was used to evaluate the diagnostic performance of HbA1c. Sensitivity, specificity and likelihood ratios for different HbA1c cut-off points were calculated. RESULTS: Of the 262 women in the third trimester of gestation enrolled in the study, 86 (33%) were diagnosed with GDM. Only five of these women presented HbA1c ≥48 mmol/mol (6.5%). This cut-off point presented 100% specificity but very low sensitivity (7%). Based on ROC curve, and considering OGTT as the reference criterion, HbA1c ≥40 mmol/mol (5.8%) showed adequate specificity in diagnosing GDM (94.9%) but low sensitivity (26.4%). Unlike, HbA1c values of 31 mmol/mol (5.0%) presented adequate sensitivity (89.7%) but low specificity (32.6%) to detect GDM. For women with HbA1c ≥40 mmol/mol (5.8%), the positive and negative likelihood ratios were 5.14 (95%CI 2.49-10.63) and 0.78 (0.68-0.88), respectively. The post-test probability of GDM was about 40%, representing a 4.0-fold increase in the mean pre-test probability. This cut-off point could eliminate the need for the unpleasant and laborious OGTT tests in almost one third of cases, as 38% of patients with GDM may be diagnosable by HbA1c test alone. CONCLUSIONS: Our results show that combined HbA1c and OGTT measurements may be useful in diagnosing GDM.

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Year 2015
Authors Kabaran S , Besler HT - More
Journal Journal of health, population, and nutrition
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BACKGROUND: In this study discussed the primary and regulatory roles of fatty acids, and investigated the affects of fatty acids on metabolic programming. METHODS: Review of the literature was carried out on three electronic databases to assess the roles of fatty acids in metabolic programming. All abstracts and full-text articles were examined, and the most relevant articles were selected for screening and inclusion in this review. RESULTS: The mother's nutritional environment during fetal period has important effects on long term health. Fatty acids play a primary role in growth and development. Alterations in fatty acid intake in the fetal period may increase the risk of obesity and metabolic disorders in later life. Maternal fatty acid intakes during pregnancy and lactation are passed to the fetus and the newborn via the placenta and breast milk, respectively. Imbalances in fatty acid intake during the fetal period change the fatty acid composition of membrane phospholipids, which can cause structural and functional problems in cells. Additionally, the metabolic and neuroendocrine environments of the fetus and the newborn play key roles in the regulation of energy balance. CONCLUSIONS: Imbalances in fatty acid intake during pregnancy and lactation may result in permanent changes in appetite control, neuroendocrine function and energy metabolism in the fetus, leading to metabolic programming. Further studies are needed to determine the role of fatty acid intake in metabolic programming.

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Year 2015
Journal AJR. American journal of roentgenology
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OBJECTIVE: The value of annual mammography remains an area of debate because of concerns regarding risk versus benefit. The potential for harm due to overdiagnosis and treatment of clinically insignificant cancers may not be captured by breast cancer-specific mortality. Instead, we examined all-cause mortality as a function of missed annual mammography examinations before breast cancer diagnosis. MATERIALS AND METHODS: Primary breast cancer cases diagnosed in the Marsh-field Clinic Health System from 2002 through 2008 were identified for retrospective review, and whether annual mammography examinations had been performed in the 5 years before diagnosis was assessed. RESULTS: Analyses were performed on 1421 women with breast cancer. After adjustment of data for age, comorbidity status, a family history of breast cancer, insurance status, medical encounter frequency, and the calendar year, women who had missed any of the previous five annual mammography examinations had a 2.3-fold increased risk of all-cause mortality compared with subjects with no missed mammography examinations (hazard ratio=2.28; 95% CI, 1.58-3.30; p<0.0001). Additionally, an analysis by the number of missed annual mammography examinations showed a progressive increase in hazard as the number of missed mammography studies increased. CONCLUSION: These results suggest that annual mammography before breast cancer diagnosis is predictive of increased overall survival. A stepwise decline in overall survival was noted for each additional missed mammography examination. These results are similar to findings in the literature for breast cancer-specific mortality and illustrate the importance of recommending annual mammography to all eligible women.

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Year 2015
Authors Dar, I.H. , Dar, S.H. , Rashid, S. - More
Journal Journal, Indian Academy of Clinical Medicine
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Lower respiratory tract infections are common in our society. Recurrent lower respiratory tract infections demand a thorough investigative workup as the cause may range from general impairment of the immune system to abnormalities of the mucous or the cilia. Reported here is a childless young married female with recurrent lower respiratory tract infections from childhood who after examination was found to have dextrocardia. D etailed evaluation revealed situs inversus, chronic sinusitis, and bronchiectasis which favoured a diagnosis of Kartagener’s syndrome. K artagener’s syndrome is an inherited disorder transmitted in an autosomal recessive manner with variable penetrance. Though there is no specific treatment for this condition, a failure to recognise it leads to an unnecessary burden on the patient as well as the hospital by way of frequent, repeated admissions and investigations leading to complications by way of inappropriate treatment.

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Year 2015
Journal American Journal of Transplantation
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Purpose Meta-analysis of 796 microarrays led to the discovery of 11 over-expressed genes (BASP1, CD6, CXCL9, CXCL10, INPP5D, ISG20, LCK, NKG7, PSMB9, RUNX3, and TAP1) in kidney, heart, lung and liver transplant rejection. Herein we developed a quantitative Common Response Module (CRM) score by tissue QPCR to distinguish acute rejection (AR). We also evaluated the impact of this score in 6 month, histologically normal protocol biopsies from patients who either developed (P) or did not develop (nP) progressive chronic injury over the first 24 months post-transplantation. Methods 146 renal allograft biopsies were collected between 1 month-10 years post-transplant as protocol or indicated from patients +/-AR or +/-IFTA. QPCR for the 11 genes was conducted with 18S as control. Significant differences were determined by unpaired two-tailed t tests or ANOVA. Gene expression, CRM scores & clinical variables were examined by multivariate analysis to determine predictive value. Results The 11 gene QPCR-CRM score was significantly increased in AR (mean = 6.202±0.81) when compared to STA (mean=1.716 ± 0.23; p<0.0001) as well as in 6 month protocol biopsies of patients who developed accelerated chronic injury at 24 months (P) (mean=3.22 ± 1.10 & 7.94 ± 2.28) when compared to nP (mean =1.45± 0.33 & 1.92 ± 0.40) at 6 (p = 0.041) & 24 months (p = 0.0003), respectively. The genes with the most significant difference in AR over STA were CXCL9 and CXCL10 (p <0.0001). The most significant changes in chronic injury were seen in CD6 (p<0.001), CXCL9 (p<0.01), and LCK (p<0.01). The 11 gene score was the most significant predictor of AR (p < 0.001) with an AUC of 0.804 (p<0.001, 95% CI = 0.705-0.903) & >75% sensitivity & specificity at a score of >2.24. By multivariate analysis a 5-gene (BASP1, ISG20, NKG7, TAP1, and CXCL9) CRM score at 6 months was significantly (p = 0.0031) predictive of IFTA. Conclusions A highly selected gene set delineates AR from STA, and distinguishes patients destined for rapidly progressive chronicity. Molecular mapping of immune activation is more sensitive than the serum cretainine or tissue histology for predicting patients at high risk of chronic graft injury.

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Year 2015
Authors Sayegh, M. , Davis, M. , Black, M. , Tagalakis, V. - More
Journal Journal of General Internal Medicine
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LEARNING OBJECTIVE #1: Disseminated Group A Streptococcus (GAS) infection and streptococcal toxic shock syndrome following thyroidectomy has previously been described but remains a rare consequence of the surgery. We describe a case and review literature on presenting symptoms and modes of transmission. CASE: Our patient was a 45 year-old woman admitted in October 2013 for an elective hemi-thyroidectomy for a nodule with pathology suspicious for papillary thyroid carcinoma. Her past medical history was pertinent for thalassemia minor and a remote provoked deep vein thrombosis (DVT). The day of surgery, the patient had reported mild upper respiratory tract symptoms. The surgery progressed in an uneventful fashion. No antibiotics were administered perioperatively. Twelve hours post-operatively, while hospitalised, the patient developed severe emesis, diarrhea, tachypnea and significant musculoskeletal pain. At the time, the patient was afebrile with normal laboratory investigations. During the next six hours, the patient became hypotensive and developed a lactic acidosis despite aggressive fluid resuscitation. The neck wound did not appear infected. Piperacillin tazobactam intravenously (IV), vancomycin per os (incidence of Clostridium difficile colitis being common in our institution) and oseltamivir IV were started. She required intubation and vasopressor support with maximal doses of norepinephrine, epinephrine and vasopressin. Continuous renal replacement therapy was initiated for anuric acute renal failure. An echocardiogram showed a globally depressed left ventricular ejection fraction of 30 % and abdominal computed tomography demonstrated pancolitis and the presence of an intrauterine device. Despite all efforts, the patient continued to require maximal support. Initial gram stain showed gram positive cocci in pairs and chains. Forty-eight hours later, blood cultures grew group A streptococcus (Streptococcus pyogenes). The serotype was serotype A, T12, emm12, Factor OF +. Her initial antibiotics were discontinued and she was started on Penicillin G IV, clindamycin IV, ceftriaxone IV and vancomycin IV as per protocol in our institution. Furthermore, a daily dose of intravenous immunoglobulin over 3 days was administered. Endotracheal aspirate grew GAS. Apelvic examination showed no purulent discharge, but a swab was positive for GAS. Her intrauterine device was removed. Further imaging and drainage demonstrated the presence of a large purulent right pleural effusion which failed to grow GAS (Image 1). She was extubated on day 10 and had a favorable course thereafter. DISCUSSION: Post-surgical GAS is defined as invasive GAS infection that occurs during the first 7 days following surgery(1). Thyroidectomies are rarely complicated by infection, but invasive GAS has been described as a possible complication of the procedure. An extensive literature revealed 21 cases of severe GAS infections postthyroid surgery through PubMed and Medline from 1996 to March 2014, in the form of case reports or audits. Of these 21 reported cases, at least 10 were associated with STSS. The case fatality rate of post thyroidectomy GAS is almost 50 % (10 out of 21) based on the reported cases identified. GAS infection post thyroidectomy presented within 24-48 h following surgery and, in many cases, has a fulminant course, requiring ICU admission for hemodynamic support of multi-organ dysfunction. The mode of acquisition appears variable: patient carrier, family member, surgeon or unknown (2-9). Of the cases where details about the clinical course was available (total of 20 cases), 17 reported evidence of a wound infection suggestive of a portal of entry for GAS during the operation. In only 3 cases was the wound intact with no need for exploration or debridement, similar to our case (2, 4, 7). In these three reported cases, the first presented with streptococcal pneumonia; the second with vomiting, hypotension, tachypnea and anuria and the third with fever, thoracic pain and tachycardia. In all three cases the symptoms began within 24-48 h of the thyroid surgery and in each case, the patient was admitted to the intensive care for septic shock and hemodynamic support. One of the three patients died(4). It can be hypothesised that direct transmission/translocation of bacteria from the throat into the bronchopulmonary tree during intubation was a possible mechanism of spread in our patient's case, as well as the three other similar cases. In our case, the patient was colonised with GAS. Secondary transmission from a member of the operating team is unlikely since there was no evidence of fasciitis or surgical wound infection. As in our patient, the emm12 serotype of GAS has been reported in other STSS cases (10). In view of our patient having a prior history of GAS pharyngitis treated with antibiotics, it is strongly suspected that endotracheal manipulation during intubation in the setting of GAS colonization resulted in bacterial translocation and invasive STSS.

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Year 2015
Authors Rai, R. , Sekhon, S. , Bhavsar, S. , Khalidi, N. - More
Journal Journal of Rheumatology
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Inflammatory pseudotumours (IPTs) are non-malignant collections of mixed inflammatory and fibroblastic cells due to an unknown etiology. IPTs have been most commonly described in the gastrointestinal and respiratory tract, but can occur anywhere in the body. The diagnosis of IPT is one of exclusion and rheumatologists are often asked to assess for entities such as granulomatosis with polyangiitis (GPA) or IgG4- related disease. Here we describe a case of a 27 year old female who presented with several months of right sided temporal headache and new-onset dysarthria, dysphagia and rightward tongue deviation. MRI revealed a mass at the skull base extending into multiple cranial nerve foraminae. Blood work revealed negative ANCA studies, elevated inflammatory markers, and normal IgG4 and ACE levels. She also had an incidentally discovered pulmonary nodule that was biopsied and showed focal necrosis with no granulomas or vasculitis. The skull base mass was biopsied and found to be consistent with IPT, without any features of vasculitis, lymphoma, sarcoidosis, infection or IgG4-related disease. She initially improved with high dose glucocorticoids followed by two doses of IV cyclophosphamide but unfortunately worsened after several weeks. A second biopsy was done to ensure that her diagnosis was correct and was again consistent with IPT. Currently, she remains symptomatic on glucocorticoids and is awaiting Rituximab therapy. We reviewed the literature for similar cases of adult patients with IPT involving the skull base with cranial nerve involvement and found seven articles detailing 10 patients. The average age of reported patients was 44 ± 12 years. In most cases patients had symptoms that had been present for months to years. All patients had an acute deterioration that led to diagnosis of IPT, usually with vision symptoms, hearing loss or worsening pain. All patients underwent imaging to localize the IPT and all had biopsies performed for definitive diagnosis. Treatment of IPT varied, two patients were managed with surgery alone, eight had variable doses and durations of glucocorticoids, and four patients also received cyclophosphamide therapy. Four patients had recurrence of symptoms after initial treatment. Overall outcomes were favourable, with resolution of symptoms and improvement of neurological deficits in eight patients. Two patients died; one from sepsis and the other from internal bleeding after the IPT infiltrated a carotid artery. Inflammatory pseudotumours have diverse presentations that may mimic rheumatologic conditions. Rheumatologists are often asked to rule out other diseases as well as aid in management with immunosuppressive medications.

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Year 2015
Authors Elhai, M. - More
Journal Annals of the Rheumatic Diseases
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Polyautoimmunity is a frequent condition in systemic sclerosis (SSc) affecting one quarter of SSc-patients. Among SSc-associated autoimmune diseases, primary biliary cirrhosis (PBC) affects 3% of the patients both in our European cohort and in a worldwide meta-analysis. PBC is a slowly progressive cholestatic liver disease characterized histologically by a chronic destructive non suppurative granulomatous/ lymphocytic cholangitis affecting the small and medium-sized bile ducts and by the presence of the highly disease-specific anti-mitochondrial antibodies (AMA), which are present in 90-95% of the patients and in less than 1% of healthy controls. Although the prevalence of PBC among SSc-patients has been estimated to 3%, about 25% of SSc-patients are positive for AMA. In these patients, long-term monitoring of signs and symptoms of cholestatic liver disease should be performed as the presence of AMA can precede clinical symptoms. Anticentromere antibodies (ACA) have been found in up to 30% of PBC patients and 80% of patients with a PBC/SSc overlap syndrome. But ACA are also observed in patients with PBC without SSc and seem to be associated with severe bile duct injury and portal hypertension. The prognosis of PBC/SSc overlap is unclear. Whereas some case reports have suggested that these patients had a slower rate of liver-disease progression compared to matched patients with PBC alone, others had suggested a worse prognosis. Regarding SSc, in our European cohort, SSc-PBC overlap patients had a milder disease, with association with the limited cutaneous subtype (OR 2.1,95% CI 1.5-2.8) and the presence of ACA (OR 6.2, 95% CI 2.3-16.5). We present the case of a 65-years old woman, with SSc-associated PBC. The patient presented a Raynaud phenomenon appeared 10 years ago with secondary digital ulcers and calcinosis appeared in 1991 revealing limited cutaneous-SSc with positivity for ACA. There was no cardiopulmonary involvement. She was treated with calcium channel blockers. In 1993 appeared liver tests abnormalities with a 5-fold increase in transaminase. Liver biopsy revealed lesions compatible with diagnosis of PBC and AMA were present at high titers. PBC led to a liver transplantation in 1999. Following transplantation, an immunosuppressant therapy by tacrolimus was introduced. In 2000, the patient suffered from dyspnea. The pulmonary tests revealed a decrease in DLCO/VA at 50%. No further exploration was performed. In 2005, the patient was admitted to our unit: symptoms and pulmonary tests remained unchanged. Echocardiography revealed an increase in PAPs at 45 mmHg and a diagnosis of pulmonary arterial hypertension (PAH) was confirmed at RHC in 2007. Treatment by sildenafil was introduced in 2007 and ambrisentan was added in 2010 because of worsening of PAH. In 2012 appeared a non-compressive pericardial effusion. In 2014, pericardial effusion was increased with worsening of dyspnea and of PAPs (80mmHg). Surgical drainage was performed with improvement of dyspnea and decrease in PAPs (55 mmHg). This case demonstrates that the prognosis of SSc-associated PBC remains unclear and that some cases may develop severe SSc complications. It is also of interest to discuss about the development of PAH in the context of profound immunosuppression required by the transplantation. Further studies are warranted to better identify the prognosis or the different profiles of SSc-associated PBC and to determine prognostic factors of a severe disease.

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Year 2015
Authors Wheatley-Price, P. - More
Journal Journal of Thoracic Oncology
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For patients with lung cancer, choices of systemic therapy are informed by clinical research. These guide the patient and clinician as to the gold standard options when facing their disease. However many patients seen day to day in the clinic are not eligible for clinical trials due to one factor or another, and therefore the applicability of standard of care options has a less solid evidence base. In a recent analysis of 528 newly diagnosed stage 4 NSCLC patients seen in consultation by medical oncologists, only 55% received systemic treatment 1. Further, when simple and limited generic clinical trial inclusion criteria were applied to these patients, only 27% would have been 'trial eligible' 2. In a review of selected recent practice changing chemotherapy, targeted therapy and immunotherapy trials, patients with significant renal impairment, hepatic impairment or cardiac impairment would have been excluded 3-6. Therefore how should clinicians and patients approach making decisions about systemic therapy in the presence of organ failure, given the lack of available evidence? This abstract seeks to provide guidance on a reasonable approach to patients with lung cancer and organ failure. These issues should be discussed in a multi-disciplinary format, with specific interaction with specialists related to the particular organ failure (nephrology, hepatology, cardiology etc.), in addition to a specialist oncology pharmacist if the decision is made to proceed with therapy. Patients should be fully informed regarding relative benefits and harms from therapy, the consequences of declining therapy, and that proceeding with treatment will almost certainly not be based on level one evidence. Consideration should be given to early palliative care specialist input, and advance care planning. Understanding the cause and prognosis of the organ failure is self-evidently important. This abstract restricts discussion to patients with pre-existing organ failure, rather than organ failure secondary to the malignancy. In a recent review of clinical indicators of 6-month mortality in advanced non-cancer illnesses, Salpeter and colleagues evaluated heart failure, dementia, geriatric failure-to-thrive syndrome, hepatic cirrhosis, chronic obstructive pulmonary disease and end-stage renal disease. This list represented approximately 70% of the non-cancer diagnoses on admission to hospice 7. Clearly not all patients with these conditions die within 6 months, and the authors identified common and disease specific prognostic indicators, including poor PS, malnutrition, comorbid illness and organ dysfunction. In the cancer clinic, the clinician must understand the natural course of the organ failure pathology. For patients with liver, kidney or heart failure who may be waiting for organ transplantation, the diagnosis of lung cancer makes them ineligible for the transplant program. Regarding prognosis of advanced organ failure, the United States Renal Data System (USRDS) Annual Report for patients receiving hemodialysis for end-stage renal disease, describes 3-year survival as 52%, and 61% for patients receiving peritoneal dialysis. The risk of death is particularly high in the first year of hemodialysis, with rates reported up to 25%. The Canadian Organ Replacement Register Annual Report describes a 5-year survival for patients on dialysis of approximately 43% (www.cihi.ca/corr ). For patients with end-stage heart failure, the 1-year survival is approximately 50% 8, which is not dramatically different to patients with stage 4 NSCLC receiving 1st line chemotherapy. The prognosis of patients with liver cirrhosis is variable, depending on severity, etiology and the presence or absence of complications. The MELD score (Model for End-Stage Liver Disease) is used to assess the severity of chronic liver disease 9, as an alternative to the Child-Pugh scoring system. Salpeter et al reported patients with decompensated liver failure (the presence of complications of cirrhosis) may have a median survival <6 months if associated with high MELD scores. An understanding of competing morbidities therefore clearly plays an important role in understanding the role systemic therapy plays in lung cancer. In assessing the need for adjuvant chemotherapy in patients with early stage disease, for patients with organ failure it is highly likely that any benefit from chemotherapy (approximately 5%) will be outweighed by the competing risks of the comorbid condition. After assessing patients with lung cancer, in the multi-disciplinary context and taking into account the issues discussed, the decision may still be to proceed with therapy. This should be on the understanding of the relative lack of data, and then a choice of regimen based on an understanding of the drug metabolism, with appropriate dose adjustments after dialogue with an oncology pharmacist. Table 1 outlines common lung cancer drugs and their route of elimination, and recommendations on use in renal or hepatic impairment. For patients receiving dialysis, there is variation in advice as to timing of administration relative to dialysis. This information and tabular information is taken from product monographs and selected references 10,11. Data on efficacy for these drugs in these scenarios is largely limited to case reports. In conclusion, lung cancer patients with organ failure represent a population excluded from clinical trials and with a limited evidence base. The competing morbidity and mortality significantly mitigate against potential benefits from anti-cancer systemic therapy. The newer generations of targeted therapies and immunotherapies may be easier to deliver, but again limited data exists. Clinicians should discuss these cases in a multi-disciplinary environment, and early intervention from palliative care specialists may be particularly appropriate. (Table Presented).

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Year 2015
Journal Nephron
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Objectives: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and often recurrent infections. Paradoxically, 8-22% of patients develop granulomatous disease. Granulomata have been described in the lungs, skin, liver, spleen, kidneys, eyes, lymph nodes and intestines. Data about central nervous system (CNS) disease in CVID are extremely rare. We aimed to describe a case series and systematic review of CNS involvement in CVID to understand different features and patterns of the disease. Methods: We searched all the English Pubmed database between 1950 and 2014 using the Key Words 'CVID', 'granulomata', 'brain', 'sarcoidosis', and 'sarcoid-like syndrome'. Only 15 patients were reported. We combined our experience with 4 additional cases from Cleveland Clinic between 2009 and 2014. Demographics, clinical features, laboratory and imaging findings, treatment and follow-up were extracted for the 19 patients and summarized descriptively. Results: Female gender and Caucasian race represented 63.2% (12/19), and 80% of the patients. The mean age of CVID diagnosis was 24 years; mean age when CNS disease was diagnosed was 21.5 years. 68.4% (13/19) had granulomas involving >2 organs, 31.6% (6/19) had CNS granulomas only. Associated granulomatous diseases occurred in lungs (72.7%), lymph nodes (27.2%), spleen (27.2%), eyes (18.1%), liver (18.1%), parotids (9%), and skin (9%). Symptoms of CNS involvement included seizures (31.6%), headaches (21%), vision loss (15.7%), decreased cognition (10.5%), focal weakness (5.2%), nystagmus (5.2%), ataxia (5.2%), coma (5.2%) and polyuria and polydypsia (5.2%). Brain mass was the most common radiologic finding (70%) followed by leptomeningeal enhancement, non specific white matter lesions, and absence of normal signal of the neurohypophysis (10%).Brain pathology findings included granulomatous disease in 83.3%, vasculitis without granulomas in 8.3%, and lymphocytic infiltrates of the meninges with diffuse non caseating granulomas in 8.3%.Cerebrospinal fluid analysis revealed elevated total proteins with/or without lymphocytic pleocytosis in 80%. Treatment included steroid, IVIG, Anti-TNF, rituximab methotrexate, cyclosporine, azathioprine, and cyclophosphamide. Conclusion: CNS disease is a rare challenging complication of CVID. Female gender, Caucasian race and lung involvement appear to be associated with brain involvement. Although immunoglobulin and steroids remain the first line treatment, other immunosuppressive agents have shown some promise with regards to recurrent relapsing presentations.

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