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Lojain AlBathi,1 Noura Abouammoh,2 Nayef AlSwaina,3 Hani B AlBalawi,4 Abdullah A Al Qahtani,5 Mohammed Talea,6 Sulaiman M AlSulaiman,7 Marwan A Abouammoh1 1Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 2Department of Community and Family Medicine, King Saud University, Riyadh, Saudi Arabia; 3Department of Ophthalmology, College of Medicine, Qassim University, Buraidah, Saudi Arabia; 4Department of Ophthalmology, College of Medicine, Tabuk University, Tabuk, Saudi Arabia; 5Department of Ophthalmology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia; 6Department of Ophthalmology, Asir Central Hospital, Abha, Saudi Arabia; 7King Khaled Eye Specialist Hospital, Vitreoretinal and Uveitis Divisions, Riyadh, Saudi ArabiaCorrespondence: Marwan A AbouammohDepartment of Ophthalmology, College of Medicine, King Saud University, P. O. Box 245, Riyadh, 11411, Saudi ArabiaEmail dr.abouammoh@gmail.comPurpose: To identify the pitfalls in retinopathy of prematurity (ROP) screening leading to advanced disease at Ministry of Health (MOH) hospitals in Saudi Arabia.Methods: A qualitative deductive content analysis was used to study the phenomena of defects in ROP screening. A retrospective review of medical records of newborns presenting to two tertiary eye care centers with advanced ROP (stage 4 and 5) from January 2012 to June 2019 was completed. An extensive review of the original files at the referring hospitals was conducted, including the general condition and findings of ophthalmic examination and the sequence of follow-up until the infant was discharged/referred. Data analysis was completed using pre-structured categorization matrix.Results: Records of 29 infants with advanced stage ROP were identified. Only 13 medical records were available and obtained. The pitfalls in screening found in the study were failure to refer by the neonatologist, delayed follow-up by the ophthalmologist, failure to follow-up by the ophthalmologist, failure to diagnose by the ophthalmologist, poor documentation in patient files, unavailability of ophthalmologist, family negligence, lack of treatment and delayed referral to a higher center, and progression despite timely screening and management.Conclusion: Although clear ROP screening guidelines are available, implementations of these guidelines are suboptimal. This study showed that the most common defect in screening is physician’s inadequacy and unavailability. A proper network of competent ROP screening physicians in all neonatal intensive care units should be established. Centers for advanced ROP surgery should be allocated to deliver a timely surgical care if needed.Keywords: retinopathy of prematurity screening, pitfalls, content analysis

Objectives To evaluate the impact of family history of autoimmune diseases (FHADs) on the clinical characteristics and outcome of juvenile idiopathic arthritis (JIA). Methods We retrospectively reviewed children with JIA seen in 7 pediatric rheumatology clinics from 6 Arab countries. All included patients met the International League of Associations for Rheumatology classification criteria for JIA and had a disease duration greater than 1 year. Data were collected at the last follow-up visit and comprised clinical findings, including FHADs. Disease activity and disease damage were assessed by Juvenile Arthritis Multidimensional Assessment Report, and juvenile arthritis damage index (JADI) respectively. Disease activity was categorized as remission off treatment, remission on treatment, or active disease. Results A total of 349 (224 females) JIA patients with a disease duration of 5 (interquartile range 2.9-7.5) years were included. The most frequent JIA categories were polyarticular JIA and oligoarticular JIA, followed by systemic JIA. There were 189 patients with FHADs and 160 patients without FHADs. The most frequent FHADs were diabetes mellitus (21.2%), JIA (18.5%), rheumatoid arthritis (12.7%). Among patients with FHADs, 140/189 (74.1%) achieved clinical remission, while 131/160 (81.9%) patients without FHDs had clinical remission (odds ratio [OR] = 1.2, 95% CI 0.97-1.5). Rate of consanguinity, enthesitis-related arthritis (ERA) and psoriatic arthritis were higher in patients with FHADs (OR = 0.6, 95% CI 0.4-0.9 and OR = 1.2, 95% CI 1.1-1.4). Also, articular JADI correlated significantly with presence of FHADs (OR = 1.1, 95% CI 1.0-1.1). Conclusion This study shows that autoimmune diseases cluster within families of patients with JIA with a high proportion of ERA and psoriatic arthritis. JIA patients with FHADs are likely to have more disease damage.

In thyroid subjects, leptin hormone and thyroid-stimulating hormone levels connect; both are emphatically corresponding with adiposity. “Leptin hormone was essentially raised in the hypothyroid topic,” to levels like those seen in corpulent thyroid topic. This study aimed to determine leptin hormone levels, T3, T4, TSH, HbA1c %, FBG, lipid profile in diabetic and diabetic with hypothyroidism patients and compare the outcome with the healthy group. 90 samples were registered in this study with their ages ranging between (40 - 65) years that dole out into 3 groups as follows: thirty healthy groups (G1), thirty patients with diabetes (G2), and category three (G3) include diabetic patients and hypothyroidism as an associated disease. This study revealed a slightly significant elevated leptin in G3, contrasting to G2 and G1. Meantime no significant elevated spotted between G2 and G1. The conclusion could be from this investigation that leptin levels were changed in patients’ gatherings that might be utilized in checking and early analysis of thyroid dysfunction in these patients relying upon the significant connection for leptin chemical with T3, T4, and TSH.

Objective To report the cumulative articular and extraarticular damage in Arab children with juvenile idiopathic arthritis (JIA) and to identify variables that correlate with disease damage. Methods We conducted a multicenter, cross-sectional study among 14 pediatric rheumatology centers from 7 Arab countries. JIA patients who met the International League of Associations for Rheumatology classification criteria and had a disease duration of >1 year were enrolled. Disease activity status was assessed using the Juvenile Arthritis Multidimensional Assessment Report. Disease damage was assessed by the Juvenile Arthritis Damage Index, articular (JADI-A) and extraarticular (JADI-E). Results A total of 702 (471 female) JIA patients with a median age of 11.3 years (interquartile range [IQR] 8.0-14.0 years) were studied. Median age at disease onset was 5 years (IQR 2.0-9.0 years) and the median disease duration was 4 years (IQR 2.0-7.0 years). The most frequent JIA categories were oligoarticular JIA (34.9%), polyarticular JIA (29.5%), and systemic JIA (24.5%). Clinical remission was achieved in 73.9% of patients. At the last clinic visit, 193 patients experienced joint damage, with a mean ± SD JADI-A score of 1.7 ± 4.5, while 156 patients had extraarticular damage, with a mean ± SD JADI-E score of 0.5 ± 1.1. Patients with enthesitis-related arthritis had the highest JADI-A score. JADI-A correlated significantly with the presence of a family history of JIA. JADI-A and JADI-E had a significant correlation with long disease duration. Conclusion Cumulative damage was common in this Arab JIA cohort, and consanguinity and JIA in a sibling were frequent findings and were associated with a greater cumulative damage.

Objective: study the impact of COVID-19 pandemic on the prevalence of burnout and the associated factors among health care workers in Saudi Arabia. Methodology: This study targeted all categories of health care workers (HCWs) in Saudi Arabia. The data were collected through an online questionnaire that included: sociodemographic data, medical history, smoking history, work characteristics, direct care of infected patients, questions of Maslach Burnout inventory (MBI) to assess burnout among health care workers that assess the Emotional Exhaustion (EE), Depersonalization (DP), and Personal Achievement (PA). The collected data was analyzed through SPSS program version 25. Results: The total number of the participants in this study was 3,557. The results showed that 38.5% of the participants scored high for EE, 31.2% for DP, and 33.6% for PA. On analysis, being younger than the age of 40 years, female, or Saudi nationality tended to be associated with increased all burnout parameters. Shift work, on call duties, changing working hours, direct involvement in management of COVID-19 patients were associated with high burnout scores. Conclusion: High burnout is common among healthcare workers in Saudi Arabia during COVID-19 pandemic due to direct contact with infected cases and changes in the working patterns during the pandemic, etc. These factors should be discussed to find solutions to relieve the health care workers from excess stress and burnout.

BACKGROUND AND OBJECTIVE: Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in association with microcoria. The authors aim to describe the posterior segment and retinal features in Pierson syndrome. PATIENTS AND METHODS: A retrospective chart review of nine patients diagnosed with Pierson syndrome was ascertained. Details of ophthalmic history, ocular examination, retinal imaging, and surgical interventions were obtained during a median duration of 17 months of follow-up (range: 6 to 60 months). Retinal interventions included scatter laser photocoagulation and surgical retinal repair. RESULTS: Sixteen eyes of nine patients were included. The axial length of five eyes with flat retina was 26.59 mm ± 0.99 mm. Highly myopic features including tessellated fundus with accompanying optic disc pallor, unidentifiable cup, and abnormal retinal vascular emanation from the disc were observed in all eyes (100%), whereas 12 eyes (75%) had parapapillary chorioretinal atrophy. Features of abnormal retinal vascularization included avascular peripheral retina on fluorescein angiography, aberrant course of the temporal arcades in 13 eyes (81.3%), and straightened nasal retinal blood vessels in 12 eyes (75%). Tortuous retinal blood vessels were observed in three eyes (18.75%). Surgical repair was performed in five out of seven eyes with rhegmatogenous retinal detachment (RRD). Recurrence was observed in all eyes, which required two to three procedures to achieve final reattachment. CONCLUSIONS: Combined features of high axial myopia with incomplete peripheral vascular maturation characterize the posterior segment in Pierson syndrome. Careful posterior segment examination is essential to detect RRD or retinal neovascularization. [ Ophthalmic Surg Lasers Imaging Retina . 2020;51:618–627.]

Background The classification and pathogenic basis of juvenile idiopathic arthritis (JIA) are a subject of some controversy. Essentially, JIA is an exclusion diagnosis that represents a phenotypically heterogeneous group of arthritis of unknown origin. Familial aggregation of JIA supports the concept of genetic influence in the pathogenesis of JIA. Objective To present the spectrum of laccase domain-containing 1 (LACC1)-associated juvenile arthritis with clinical, biochemical, and molecular genetic data of a cohort of 43 patients, including 11 previously unpublished cases. Methods We studied 11 patients with different categories of juvenile idiopathic arthritis from 5 consanguineous families, all from Saudi Arabia, except 2 patients who were of Jordanian ethnicity. Whole-exome sequencing was used to identify the disease-causing variant of LACC1. We also reviewed the clinical spectrum and molecular genetic data of previously published cases of LACC1-associated juvenile arthritis. Results This study describes 43 (29 females, 14 males) patients from consanguineous multiplex families. Most of the included patients were of Arab origin with 86% having early onset disease. The most frequent categories were systemic (19 patients) and rheumatoid factor-negative polyarticular (19 patients). Thirty-seven (86%) had progressive erosive arthritis and 10 (23.3%) had persistent limb lymphedema. None of the patients had features of macrophage activation syndrome. Genetic analysis confirmed LACC1 variant in all patients; 22 patients had common founder mutation (LACC1: c.850T > C,p.C284R), while the others showed different LACC1 variants. All patients were treated aggressively with methotrexate and sequential biologic agents. Most of them showed a poor response to treatment. Conclusion This report expands the pathogenic variants of LACC1 and the clinical spectrum associated with this genetic subset of juvenile arthritis. The predominance of autosomal-recessive inheritance and strong genetic evidence allowed us to propose LACC1-associated juvenile arthritis as a distinct disorder.

To report a case of initial-onset acute Vogt-Koyanagi-Harada (VKH) presenting with internal limiting membrane (ILM) folds as the initial clinical sign.This is a retrospective case review.A 36-year-old woman with a recent history of periorbital injection of cosmetic filler who presented with sudden blurred vision in the right eye of a few hours duration. Initial fundus examination revealed only ILM folds in the right eye. Next day, the patient developed the full ophthalmic clinical picture of initial-onset acute VKH disease. Multimodal imaging showed features of ILM undulations and acute VKH disease. Uveitis was treated successfully with systemic corticosteroids combined with mycophenolate mofetil. The patient had complete resolution of posterior segment inflammation and exudative retinal detachment.ILM folds/undulations can be one of the early signs in acute VKH disease, and may serve as an important early clinical clue for this diagnosis.

A 37-year-old otherwise healthy male presented with paracentral scotoma in his right eye for 1 day with a history of having unprotected sex with multiple partners. The patient was diagnosed to have acute syphilitic posterior placoid chorioretinitis with multimodal imaging including spectral-domain optical coherence tomography and fundus fluorescein angiography. His condition improved after 2 weeks course of intravenous benzyl penicillin 1.2 g every 4 h in collaboration with infectious disease physician.

The objective of the study was to report the safety and potential therapeutic effect of belimumab in monogenic systemic lupus erythematosus (SLE). Consecutive children with monogenic SLE treated with belimumab were evaluated retrospectively. Response parameters assessment was completed at the time of initiation of belimumab, at 6 months, and last follow-up visit. Response parameters comprised physician global assessment (physician GA) and parent global assessment (parent GA), global disease activity as measured by SLE disease activity index (SLEDAI), and daily glucocorticoids dose. Undesirable events affecting patients during treatment were also collected. Six children with monogenic SLE proved by genetic testing (five patients with C1q deficiency and one patient with deoxyribonuclease II (DNase II) deficiency), failed glucocorticoids and sequential immunosuppressive medications. Belimumab was added to glucocorticoids and current immunosuppressive medications. The main indications for belimumab initiation were mucocutaneous disease, arthritis, and inability to taper glucocorticoids. All patients tolerated belimumab infusion. No serious events were reported. However, one patient was lost to follow-up and died because of sepsis. Compared to the baseline values, there was an improvement in physician GA, parent GA, and SLEDAI, and a notable reduction in the need of daily corticosteroids. However, there were no significant changes in the complement and ds-DNA antibody levels. Belimumab can be considered as an adjunctive therapeutic option for patients with refractory monogenic SLE. Further follow-up and more patients needed to confirm this finding and a larger prospective study is required for more definitive conclusions.

BACKGROUND: Patient satisfaction is the ultimate goal in any healthcare system. Together with other traditional quality indicators, patient satisfaction must be addressed to improve the quality of health care. The strategic objectives of the Ministry of Health (MOH) formulated by the Saudi National Transformation Program are to improve the quality of healthcare services, expand privatization of governmental services, and create an attractive environment for both local and international investors. The objective of this study was to apply Kano model to determine quality attributes of patient care at primary healthcare centers in Saudi Arabia. MATERIALS AND METHODS: This cross-sectional study was conducted at primary healthcare centers (PHCs) under the MOH in Saudi Arabia between October 2018 and February 2019. Study included all Saudi adult patients aged 18 years or older attending the selected PHCs of MOH. Patients who had difficulty in comprehending were excluded. Data was collected by using a structured questionnaire based on the Kano model for the assessment of patients' expectations of the quality of care and provided services. Data was entered and analysed using SPSS. Chi-square test and t-test were used to test for statistical significance. RESULTS: The study included a total of 243 patients from 10 PHCs, 51% from consulting PHCs and 49% from nonconsulting PHCs. Response rate was 97.2%, and 44.9% respondents were males. Of the 18 attributes chosen for our study, 14 were one-dimensional, three belonged to the attractive type, and one was indifferent type. The top three one-dimensional attributes were “friendliness and respectfulness of the clinic receptionist,” “friendliness and respectfulness of the nurses and laboratory staff,” and “care and attention of the doctor”. CONCLUSION: The investors and policymakers need to turn their attention to assisting in the privatization of governmental services by creating a good climate for both local and international investors.

Objective: To assess the usefulness of serum ferritin and soluble interleukin-2 receptor (sIL-2r) levels as markers of disease activity in childhood systemic lupus erythematosus (cSLE) and their role in screen for subclinical macrophage activation syndrome (MAS). Patients and methods: This is a cross-sectional analysis of prospectively collected data. Consecutive children who met the Systemic Lupus International Collaborating Clinics (SLICC) criteria were enrolled between June 2015 and June 2017. All patients interviewed and assessed for disease activity using SLE disease activity index (SLEDAI). Biochemical and serological tests including markers of disease activity and MAS were measured by standard laboratory procedure. Results: A total of 31 (25 female; 6 male) consecutive cSLE patients with a mean age of 10.6 (±3.2) years were included. The most frequent manifestations were mucocutaneous and musculoskeletal (84%) followed by hematological (64.5%) then renal involvement (58%). Twenty-two patients had active disease (SLEDAI ≥ 4), with a mean of 9.8. Mean serum ferritin and sIL-2r were 555 (±1860) and 2789 (±1299) respectively. Both correlated significantly with leucocyte, platelet count, transferrin, C3 and SLEDAI (p

To describe the stages of development and natural course of a full-thickness macular hole (FTMH) in a patient with enhanced S-cone syndrome (ESCS). This study reported the serial ophthalmologic examinations and macular spectral-domain optical coherence tomography (SD-OCT) imaging over a period of 6 years in a 29-year-old man with ESCS confirmed by electroretinography (ERG) and NR2E3 molecular genetic analysis. At presentation, patient had night blindness and visual acuity (VA) of 20/300 in the right eye (OD) and 20/100 in the left eye (OS). Examination showed bilateral retinal midperipheral pigmentary deposits and a macular schisis in OD. Electroretinography and NR2E3 genetic analysis confirmed ESCS. A year later, a lamellar MH (LMH) appeared at the fovea in OD. SD-OCT confirmed it as inner retinal layer LMH with outer retinal preservation and displayed, on the temporal side of the LMH, prominent splitting between the inner and outer retinal layers. At 2 years, a focal defect in the ellipsoid zone appeared on SD-OCT, followed by split in the outer retinal layer creating a progressively expanding outer LMH. The latter had rolled edges which then fused with the inner LMH margins creating a single full-thickness FTMH. Over the next 4 years, enlargement of the FTMH with increased adjacent retinal splitting continued. No visible vitreous abnormalities or vitreoretinal traction forces were identified at any stage during follow-up. VA OD remained unchanged. This case illustrates that the clinical evolution of FTMH in ESCS may be progressive and likely involves degeneration and intraretinal, rather than vitreoretinal, traction. This should be kept in mind when considering surgical intervention in these cases.

Extramedullary plasmacytomas (EMPs) are uncommon plasma cell tumors that develop in soft tissue as isolated tumors without osseous involvement while secondary lesions are associated with systemic multiple myeloma (MM). Primary extramedullary lesions are most commonly found in upper respiratory tract, gastrointestinal tract and lymph nodes. They can be found either in patients with history of MM or preceding the manifestation of a systemic disease. Orbital manifestation of the lesion is rare but conjunctival involvement is very unusual. The reported cases in the English-written literature are only five cases. Herein, we report the sixth case of primary EMP in a middle-aged adult who presented with a lesion confined to the conjunctiva, unremarkable present and past medical history, and confirmed tissue diagnosis. In addition, a review and summary of the previously reported cases in the literature is presented. We aim to attract the attention of ophthalmic surgeons to consider plasmacytoma within the differential diagnosis of a conjunctival lesion., Highlights • Extramedullary plasmacytomas (EMP) are isolated primary soft tissue plasma cell tumors without osseous involvement. • Secondary lesions are associated with systemic multiple myeloma. • The conjunctiva is a very unusual location for primary lesions. • We are reporting the sixth case of conjunctival primary EMP. • All cases including ours are summarized.

Introduction Systemic lupus erythematosus (SLE) is a multi-organ inflammatory disease associated with autoimmune diseases. The aim of the study is to assessed the frequency of celiac disease (CD) in adults and children with SLE (aSLE and cSLE, respectively) and compare them with rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) patients; the study also explored the clinical impact of CD serologic markers on SLE disease activity and severity. Methods This was a cross-sectional study. Patients with SLE who had regular follow-up in rheumatology clinics were evaluated for laboratory and clinical variables using serology and the SLE Disease Activity Index (SLEDAI). To assess the occurrence of CD serology in cSLE and aSLE and the clinical impact of CD serologic markers on SLE, patients were tested for antigliadin (AGA), anti-endomysium (EmA) and anti-tissue transglutaminase (tTG) antibodies. RA and JIA patients were included for comparison. Duodenal biopsy was conducted in patients who exhibited CD markers. Results The CD marker was found in 29 (11.6%) of the 250 patients. AGA was present in seven aSLE patients and tTG in two (11.1%). Among cSLE patients, the autoantibody was present in 17.6% (AGA in four, tTG in two, and EmA in three). For RA patients, five had AGA and tTG and one had EmA, with an overall positivity of 9.7%. Five JIA patients had AGA (four with EmA and five with tTG) with overall positivity of 10.9%; the serum IgA level was normal in all patients except one. Duodenal endoscopic biopsy was performed in patients with positive CD markers (two declined). Histologic confirmation of CD was reported in one RA and one JIA patient but in none of the SLE patients. There was no correlation between the presence of CD markers and autoantibodies in SLE. Conclusion CD antibodies did not influence SLE activity. Thus, SLE patients may not need to be screened for CD antibodies.

Genetic defect of phosphatase and tensin homolog (PTEN) gene might play a role in B cell hyperactivity and result in the development of systemic lupus erythematosus (SLE), while transaldolase deficiency has a spectrum of clinical features including autoimmune endocrinopathy. Herein, we identified a novel phenotype in a girl presenting with clinical and laboratory findings consistent with SLE. Exome sequencing identified pathogenic heterozygous variant in PTEN gene (NM_000314: exon 6: c.518G > C: p. R173P) and homozygous variant in TALDO1 gene (NM_006755: exon 6: c.793C del: p. Q265f). Our report highlights the association of PTEN mutation and autoimmunity and the possibility that transaldolase deficiency may be indirectly involved in the development of SLE.

Obesity is a chronic disorder that is associated with body mass index (BMI) of greater or equal to 30 kg/m2. The prevalence of obesity in the Kingdom of Saudi Arabia (KSA) is increasing at an alarming rate and is expected to reach 41% in men and up to 78% in women by 2022. Since chemokines are associated with involuntary weight loss, the objective of this study was to elucidate their association with BMI among Saudis. A questionnaire was used to collect information about diet, health conditions, and demographics from 15 men and 16 women who participated in the study. BMI was calculated based on clinical measurements and participants were classified according to their BMI category as: normal, underweight, overweight, or obese. Serum samples were collected for a multiplex assay using the Human Chemokine Magnetic 30-plex panel. The serum concentration of either the monokine induced by gamma interferon (MIG) or the CXC-motif chemokine ligand 9 (CXCL-9) was significantly increased in obese men (P = 0.0194) and women (P = 0.043) as compared to underweight men and women, respectively. However, the serum levels of other chemokines were not significantly different among the groups. We found that MIG levels are differentially regulated in serum, based on individuals’ BMI. Keywords: Chemokines, Body mass index, Obesity, Saudi Arabia, Multiplex assay

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications.

To define the spectrum and phenotypic characteristics of systemic autoinflammatory diseases (SAIDs) other than familial Mediterranean fever (FMF) in Arab children and to delineate diagnostic evaluation. Data retrospectively collected on patients with clinical and/or genetically proven SAIDs other than FMF at 10 tertiary Arab pediatric rheumatology clinics from 1990 to 2018. The collected data comprised the clinical findings and diagnostic evaluation including genetic testing, the provided treatment and the accrual damage related to SAIDs. A total of 144 patients (93 female) with a median age at onset of 2.5 (range 0.1-12) years were enrolled. The initial diagnosis was inaccurate in 49.3%. Consanguinity rate among parents was 74.6%. The median time-to-diagnosis for all SAIDs was 2.5 (range 0.1-10) years. There were 104 patients (72.2%) with a confirmed diagnosis and 40 patients with suspected SAIDs. Seventy-two had monogenic and 66 patients with multifactorial SAIDs while six patients had undifferentiated SAIDs. The most frequent monogenic SAIDs were LACC1 mediated monogenic disorders (n = 23) followed by CAPS (12), TRAPS (12), HIDS (12), and Majeed's syndrome (6). The most frequent multifactorial SAIDs was CRMO (34), followed by PFAPA (18), and early onset sarcoidosis (EOS) (14). Genetic analysis was performed in 69 patients; 50 patients had genetically confirmed disease. Corticosteroid used for 93 patients while biologic agents for 96 patients. Overall, growth failure was the most frequent accrual damage (36%), followed by cognitive impairment (13%). There were three deaths because of infection. This study shows a heterogenous spectrum of SAIDs with a high number of genetically confirmed monogenic diseases; notably, LACC1 associated diseases. Hopefully, this work will be the first step for a prospective registry for SAIDs in Arab countries.

The objective of this study is to assess the usefulness of the stand-alone renal SLICC criterion in patients with childhood systemic lupus erythematosus (cSLE) and report their disease course, treatment response, and outcome. This study included children who were followed regularly in our lupus clinic with proved full house glomerular immune deposits nephritis and antinuclear (ANA), or anti-double-stranded DNA (dsDNA). They were compared with patients who diagnosed with cSLE with and without biopsy proven nephritis, based on Systemic Lupus International Collaborating (SLICC). The comparative group selected by systematic sampling from our cSLE database; the first patient was chosen randomly, and the subsequent patients chosen at intervals of three. The two groups were compared in respect to demographic data, clinical and laboratory findings, and disease course including response to treatment and outcome using urine protein/creatinine ratio, eGFR, and urine sediments. A total of 37 patients were assessed, six patients met the stand-alone renal SLICC criterion, 18 patients had cSLE with biopsy proven nephritis, and 13 cSLE patients without biopsy proven nephritis. Age of onset and time to diagnosis were comparable. However, patients with stand-alone renal criterion had significantly higher baseline serum creatinine, urine protein/creatinine ratio, and lower ANA titer (p 0.05). Furthermore, none of the patients had other lupus manifestations. Four patients showed partial response to treatment. Two patients had renal impairment and one patient developed end-stage renal disease. Patients with full house glomerular immune deposits nephritis and ANA, or anti-dsDNA reflect a different disease spectrum with severe renal manifestations and worse outcome. Further large prospective study is required to revisit the validity of the stand-alone renal SLICC criterion in cSLE. KEY POINTS : • There is no definite diagnostic tool for SLE. Furthermore, to date there are no specific classification criteria for cSLE. • It seems that patients who met the stand-alone renal SLICC criterion might represent a distinct disease spectrum with severe renal involvement.

Juvenile Idiopathic Arthritis (JIA) is a group of chronic heterogenous disorders that manifests as joint inflammation in patients aged

Background: Serious intense respiratory disorder Covid-19 is a causing respiratory infection known as Corona virus. This novel corona virus transmits from one human to another and has caused significant mortality overall prompting the continuous pandemic. Also, illness seriousness varies extensively from one person to another. Subjects: fifty individuals (n = 50) with age ranged (20-65 years) were enrolled in this study. Laboratory parameters were performed of baseline and 14 days after first dose and 14 days after second dose from covid-19 vaccination. Results: All people in this study received the Pfizer-BioNTech vaccine and none systematic side effects were observed in vaccinated subjects during the study period. Conclusions: From the results of present study, conclusions could be that all parameters non-significant and not presence of abnormal biochemical signs or increase in coagulation or changes in basic body functions following the received of the Pfizer vaccine.

Purpose: To report a patient with Pierson syndrome who presented with neovascular glaucoma (NVG) after cataract surgery. Methods: Retrospective case report. Results: A 17-year old monocular female ...

The COVID 19 pandemic has caused great havoc amongst the people in society across the globe. It has affected people both physically and emotionally. The epicentre of the virus has been attributed to Wuhan, from where it spread in the different parts of the globe. Vaccination emerged as one of the best solutions to deal with the proliferation of the virus. It also helped people to protect themselves against hospitalization and reduced death rates. The researcher has used Secondary sources to gather information and data related to the immunological markers in Covid-19 vaccinated population. A major immune marker is the manufacturing of neutralizing antibodies. However, the further implication in this aspect is still under research by scientists.

Purpose of review We describe the clinical and genetic findings in four patients from a single family who presented with refractory psoriatic arthritis and were hemizygous in the forkhead box protein 3 (FOXP3) gene (c.1222G>A). Recent findings We report four siblings with hemizygous mutation in the FOXP3 gene (c.1222G>A) who presented with type 1 diabetes mellitus and psoriatic arthritis poorly responsive to treatment. Our findings expand the phenotype spectrum of FOXP3 mutations. Immune dysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in FOXP3 gene, which lead to early onset of constellation of autoimmune manifestations. This report highlights the influence of immune dysregulation in juvenile arthritis.

To report the outcomes, advantages and disadvantages of a heads-up three-dimensional (3D) visualization system compared to the conventional microscope in pediatric tractional retinal detachment (TRD) surgery secondary to advanced stage retinopathy of prematurity (ROP). Medical records of patients with ROP stage 4 or 5 who underwent surgery for tractional retinal detachment at King Khaled Eye Specialist Hospital between September 2017 and July 2019 were identified and reviewed. Eyes were divided into 2 groups, eyes that underwent surgery with a 3D heads-up platform (3D group) and eyes that underwent surgery with a conventional microscope (conventional group). Data were collected on neonatal history, visual acuity, intraoperative complications and success rates between groups.Eighteen eyes of 14 patients who underwent surgical repair of TRD related to ROP. Postoperative outcomes were compared between 10 eyes (7 patients) in the 3D group and 8 eyes (7 patients) in the conventional group There was no statistically significant difference in success rate between both groups (75% conventional group vs 70% 3D group). Partial or complete reattachment was achieved in 7 eyes in 3D group compared to 6 eyes in conventional group. Lower postmenstrual age at the time of the first surgery and presence of retinal breaks were associated with poorer surgical outcome. Heads up 3D visualization system is feasible in tractional retinal detachment related to ROP with similar success rate and no increased risk of complications when compared to conventional microscope. This system may be advantageous in advanced pediatric tractional retinal detachment surgeries.

Purpose: To report acute photoreceptor layers loss in Behcet's disease and its anatomical recovery after treatment with systemic steroids, mycophenolate mofetil, and adalimumab. Methods: Case report. Results: A 16-year-old male who presented with an acute attack of Behcet's panuveitis along with loss of the ellipsoid zone (EZ) and interdigitation zone (IZ) on optical coherence tomography (OCT). Treatment resulted in complete recovery of photoreceptors and improvement in vision. Conclusion: Acute photoreceptor layers loss could be a manifestation of Behcet's uveitis and anatomical recovery may be achieved with aggressive and timely treatment.

Objective: To report the outcome of children with rheumatic diseases admitted to pediatric intensive care unit (PICU) in a tertiary hospital. Methods: Database from PICU and pediatric rheumatology section used to retrieve all candidate patients admitted to PICU from June 2000 to December 2017. Medical records of all enrolled patients reviewed for diagnosis, organ involvement, reason of PICU admission, the length of stay, and outcome. Results: Twenty-five patients (17 female, 8 male) with total of 41 admissions identified. The median PICU stay was 13.5 days (range, 3–24). The most frequent diagnoses were systemic lupus erythematosus (SLE) (48%), followed by systemic vasculitis (16%). Most admissions were from the medical ward (68.3%), while 24.4% from the emergency room. The main reason of PICU admission was a disease flare or related complications (48.8%), followed by infection (34.2%). Fifty one percent of the admissions were due to respiratory dysfunction, 46% required non-invasive respiratory support while 38% was in need for mechanical ventilation. During PICU stay, anti-microbial agents used 90.3%, immunosuppressive treatment adjustment 75.6%, anti-hypertensive 24.4% and vasopressors 12.2%. Twelve patients (48%) fully recovered and 40% partially recovered while three patients died during their PICU stay. The causes of death were macrophage activation syndrome complicated by sepsis in two patients and advanced pulmonary hypertension in one patient. Conclusion: Our data showed that children with rheumatic diseases, particularly SLE, are mostly admitted to PICU with serious disease exacerbation or severe infection. To improve the outcome, early diagnosis of critical condition and proper intervention are fundamental in reducing mortality. Keywords: Pediatric intensive care, Childhood rheumatic diseases, Systemic lupus erythematosus, Outcome

Background In recent years, there was a rise in ocular injuries secondary to cosmetic laser-assisted hair removal. Purpose To assess the level of adherence to optical safety guidelines during laser-assisted hair removal performed by nurses or physicians in private practice. Methods A cross-sectional study was conducted at thirty-one private laser-assisted hair removal clinics. An electronic random number generator using a cluster random sampling technique was used to select the clinics. The Alexlazr™ (Candela Corp.) device operator's manual checklist was modified to collect data from laser device operators and patients by surveying the laser rooms, interviewing the patients, and observing the treatments. Results Ninety-four patients treated by different service providers were included from 31 private centers. All treatment sessions were delivered by trained nurses. Only 9.5% had acceptable adherence to optical safety guidelines during hair removal treatment, while the majority (90.5%) of service providers were poorly adherent. None of the providers achieved excellent adherence to optical safety guidelines. The item with the least adherence was the lack of non-reflective floors inside laser rooms in 72.3% of centers. All service providers were familiar with the laser system controls and emergency shutdown (100% adherence). Conclusion There is a significant deficiency in the safety precautions at laser-assisted hair removal centers that can result in devastating ophthalmic injuries. Companies providing laser-assisted hair removal machines should be involved in aiding these centers to implement safety procedures.

Sentiment analysis on social media such as Twitter has become a very important and challenging task. Due to the characteristics of such data—tweet length, spelling errors, abbreviations, and special characters—the sentiment analysis task in such an environment requires a non-traditional approach. Moreover, social media sentiment analysis is a fundamental problem with many interesting applications. Most current social media sentiment classification methods judge the sentiment polarity primarily according to textual content and neglect other information on these platforms. In this paper, we propose a neural network model that also incorporates user behavioral information within a given document (tweet). The neural network used in this paper is a Convolutional Neural Network (CNN). The system is evaluated on two datasets provided by the SemEval-2016 Workshop. The proposed model outperforms current baseline models (including Naive Bayes and Support Vector Machines), which shows that going beyond the content of a document (tweet) is beneficial in sentiment classification, because it provides the classifier with a deep understanding of the task.

Objectives: We studied these predictors at a single cardiac center. Methods : A retrospective cohort study was carried out after obtaining approval from the institutional review board. All patients (age, 0-14 years) who underwent congenital heart disease (CHD) surgery from January 2014 to June 2016 were included. Prolonged mechanical ventilation (PMV) was defined as greater than 72 hours of ventilation. Results : A total of 257 patients were included, among whom 219 (85.2%) were intubated for greater than 72 hours and 38 (14.8%) were intubated for ≥72 hours. Age (29.9 versus 11.95 years), weight (9.6 versus 5.9 kg), cross-clamp time (CCT) (53.6 versus 71.8 min), cardiopulmonary bypass time (CBP) (80.98 versus 124.36 min), length of stay in the pediatric intensive care unit (PICU) (10.4 versus 27.2 days), infection (12.8% versus 42.1%), open sternum (0.9% versus 13.2%), re-intubation (19.2% versus 39.5%), pulmonary hypertension (10.9% versus 31.6%), and impaired heart function (10.1% versus 23.7%) were associated with PMV. In terms of Risk Adjustment in Congenital Heart Surgery (RACHS) classification, only patients with RACHS 4 (18.4%) were associated with the risk for PMV. Conclusions : Age, weight, CBP, CCT, pulmonary hypertension, impaired cardiac function, and sepsis are risk factors for PMV. These factors should be considered when deciding surgery and in providing PICU care. Saudi Med J 2019; Vol. 40 (4): 367-371 doi: 10.15537/smj.2019.4.23682 How to cite this article: Alrddadi SM, Morsy MM, Albakri JK, Mohammed MA, Alnajjar GA, Fawaz MM, et al. Risk factors for prolonged mechanical ventilation after surgical repair of congenital heart disease. Experience from a single cardiac center. Saudi Med J . 2019 Apr;40(4):367-371. doi: 10.15537/smj.2019.4.23682.

Ahmed Hussein Subki,1 Abdel Moniem Mukhtar,2 Omar M Saggaf,1 Ragaa A Ali,3 Khalid A Khalifa,3 Dalia M Al-Lulu,3 Mohammed Saad Alsallum,1 Diyaa H Bokhary,1 Ayman M Baabdullah,1 Sulaiman M Kassar,1 Basil M Jan,4 Muhab M Hindi,1 Mohammed M Jan1 1Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia; 2Department of Family and Community Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia; 3Batterjee Medical College, Jeddah, Saudi Arabia; 4Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia Background: Epilepsy is a common neurological disorder in childhood. However, there have been limited studies on its impact on the oral health of affected children. Our study aimed to assess the oral health of children with epilepsy in the city of Jeddah, Saudi Arabia, as perceived by their mothers. Methods: We conducted a cross-sectional study in three hospitals. We included children 2–18 years old with physician-confirmed epilepsy diagnosis. We assessed parental perception of dental status and need for dental care using a standardized questionnaire that was completed by the mothers. To adjust for potential confounding variables, we used univariate and multivariate logistic regression. Results: We included 96 children with epilepsy in our study. Their mean age was 6.4±3.4 years. In 55.2% (n=53), dental status was rated as bad, and in 84.4% (n=81) a need for dental care was expressed. Cerebral palsy (OR 5.06, 95% CI 1.28–19.99; P=0.021), motor disability (OR 6.41, 95% CI 1.12–36.73; P=0.037), referral from a pediatric neurology clinic to a dentist (OR 10.755, 95% CI 3.290–35.151; P

Purpose: To identify the pitfalls in retinopathy of prematurity (ROP) screening leading to advanced disease at Ministry of Health (MOH) hospitals in Saudi Arabia. Methods: A qualitative deductive content analysis was used to study the phenomena of defects in ROP screening. A retrospective review of medical records of newborns presenting to two tertiary eye care centers with advanced ROP (Stage 4 and 5) from January 2012 to June 2019 was completed. An extensive review of the original files at the referring hospitals was conducted, including the general condition and findings of ophthalmic examination and the sequence of follow-up until the infant was discharged/referred. Data analysis was completed using pre-structured categorization matrix. Results: Records of 29 infants with advanced stage ROP were identified. Only 13 medical records were available and obtained. The pitfalls in screening found in the study were failure to refer by the neonatologist, delayed follow-up by the ophthalmologist, failure to follow-up by the ophthalmologist, failure to diagnose by the ophthalmologist, poor documentation in patient files, unavailability of ophthalmologist, family negligence, lack of treatment and delayed referral to a higher center, and progression despite timely screening and management.Conclusion: Although clear ROP screening guidelines are available, implementations of these guidelines are suboptimal. This study showed the most common defect in screening is physician’s inadequacy and unavailability. A proper network of competent ROP screening physicians in all neonatal intensive care units should be established. Centers for advanced ROP surgery should be allocated to deliver a timely surgical care if needed.

Made available in DSpace on 2022-04-28T19:49:00Z (GMT). No. of bitstreams: 0 Previous issue date: 2022-02-01 Arthritis Foundation Institute of Clinical and Translational Sciences Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institute of Diabetes and Digestive and Kidney Diseases National Center for Advancing Translational Sciences Objective: To develop a standardized steroid dosing regimen (SSR) for physicians treating childhood-onset systemic lupus erythematosus (SLE) complicated by lupus nephritis (LN), using consensus formation methodology. Methods: Parameters influencing corticosteroid (CS) dosing were identified (step 1). Data from children with proliferative LN were used to generate patient profiles (step 2). Physicians rated changes in renal and extrarenal childhood-onset SLE activity between 2 consecutive visits and proposed CS dosing (step 3). The SSR was developed using patient profile ratings (step 4), with refinements achieved in a physician focus group (step 5). A second type of patient profile describing the course of childhood-onset SLE for ≥4 months since kidney biopsy was rated to validate the SSR-recommended oral and intravenous (IV) CS dosages (step 6). Patient profile adjudication was based on majority ratings for both renal and extrarenal disease courses, and consensus level was set at 80%. Results: Degree of proteinuria, estimated glomerular filtration rate, changes in renal and extrarenal disease activity, and time since kidney biopsy influenced CS dosing (steps 1 and 2). Considering these parameters in 5,056 patient profile ratings from 103 raters, and renal and extrarenal course definitions, CS dosing rules of the SSR were developed (steps 3–5). Validation of the SSR for up to 6 months post–kidney biopsy was achieved with 1,838 patient profile ratings from 60 raters who achieved consensus for oral and IV CS dosage in accordance with the SSR (step 6). Conclusion: The SSR represents an international consensus on CS dosing for use in patients with childhood-onset SLE and proliferative LN. The SSR is anticipated to be used for clinical care and to standardize CS dosage during clinical trials. University of Cincinnati College of Medicine Baylor College of Medicine The Hospital for Sick Children and The University of Toronto Emory University and Children's Healthcare of Atlanta Sanjay Gandhi Postgraduate Institute of Medical Sciences Medical University of South Carolina KK Women's and Children's Hospital Cincinnati Children's Hospital Medical Center Hospital for Special Surgery Albert Einstein College of Medicine SRCC Children's Hospital Capital Medical University and National Center for Children's Health Universidade Federal do Rio de Janeiro Nationwide Children's Hospital University College London Cerrahpasa Medical School Istanbul University-Cerrahpasa University of Zagreb School of Medicine IWK Health Centre and Dalhousie University Hacettepe University Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Children's Hospital of Chicago University of Campinas Hospital das Clínicas da Universidade Federal de Pernambuco National and Kapodistian University of Athens University Teknologi MARA Instituto Mexicano del Seguro Social University of Washington and Seattle Children's Hospital São Paulo State University Amsterdam University Medical Center Red Cross War Memorial Children's Hospital and University of Cape Town Universidade de São Paulo Hospital de la Beneficencia Española Universidade Federal de São Paulo National Medical Center La Raza Aristotle University of Thessaloniki King Faisal Specialist Hospital and Research Center and Alfaisal University University of Cincinnati College of Medicine and Cincinnati Children's Hospital Medical Center São Paulo State University CNPq: 303422/2015-7 FAPESP: FAPESP 2015/03756-4 National Institute of Arthritis and Musculoskeletal and Skin Diseases: P30-AR-076316 National Institute of Diabetes and Digestive and Kidney Diseases: P50-DK-096418 National Institute of Arthritis and Musculoskeletal and Skin Diseases: R34-AR-071651 National Center for Advancing Translational Sciences: T32-AR-050958

Background Systemic juvenile idiopathic arthritis (sJIA) is a diagnosis of exclusion. The complex nature and clinical variety of the disease, as well as the vast clinical variation of disease presentation, may lead to difficulties in disease detection and subsequent delays in treatment. Aim To provide a consensus guidance on the management of newly diagnosed sJIA patients among pediatric rheumatologists in Arab countries. Methods This work was conducted in two phases. The first phase utilized an electronic survey sent through an email invitation to all pediatric rheumatologists in Arab countries. In the second phase, a Task Force of ten expert pediatric rheumatologists from Arab countries met through a series of virtual meetings. Results obtained in phase one were prioritized using a nominal group and Delphi-like techniques in phase two. Results Seven overarching principles and a set of recommendations were approved by the Task Force to form the final consensus. Conclusion This is the first consensus on a clinical approach for pediatric rheumatic diseases among Arab pediatric rheumatologists. It is presented as a guidance on the clinical approach to sJIA that requires further evidence, and future updates are anticipated.

Objectives To report the phenotypic, genetic findings and outcome of children with lupus manifestations associated with primary immunodeficiency diseases (PIDs). Methods Data are retrospectively collected on patients with lupus manifestations and PIDs seen between 1998 and 2019. Data comprised the clinical findings and genetic testing, the response to treatment and the accrual damage related to SLE. Results A total of 39 patients (22 female) were reviewed. Thirty-four patients had lupus manifestations and six patients with SLE-like manifestations. Genetic analysis was performed in 25 patients. Complement deficiency was the most frequent PIDs; 26 patients were C1q deficient, three patients had C3 deficiency, two patients had C4 deficiency and one patient with heterozygous C8b variant. The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3. Mucocutaneous lesions, arthritis and lung involvement were the main clinical features. 84.1% experienced recurrent infections. The mean accrual damage was 2.7 ± 2.2. There were five deaths because of infection. Conclusion This study suggests that patients with lupus manifestations and early onset disease, family history of SLE or recurrent infections should undergo immunological work-up and genetic testing to rule out PIDs.

Budoor Albabtain,1,2,* Marco Mura,3,4 Patrik Schatz,3,5 Sulaiman M Alsulaiman,3 Wael A Alsakran,3 Valmore A Semidey3,* 1Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; 2Department of Ophthalmology, Prince Sultan Medical Military City, Riyadh, Saudi Arabia; 3Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; 4Department of Translational Medicine, University of Ferrara, Ferrara, Italy; 5Department of Ophthalmology, Clinical Sciences, Skane County University Hospital, Lund University, Lund, Sweden*These authors contributed equally to this workCorrespondence: Valmore A SemideyVitreoretinal Division, Department of Ophthalmology, King Khaled Eye Specialist Hospital, P.O. Box 7191, Riyadh, 11462, Saudi ArabiaTel +966-11-482-1234 ext.2655Fax +966 11 4821234 ext.3773Email asemidey@hotmail.comPurpose: To compare the specificity of diagnosing posterior vitreous detachment (PVD) using preoperative optical coherence tomography (OCT) versus intraoperative triamcinolone acetonide (TA) staining in patients undergoing vitrectomy.Patients and Methods: This retrospective cohort study included patients undergoing pars plana vitrectomy for diverse retinal pathologies. Intraoperatively, surgeons evaluated the posterior hyaloid status with TA staining and compared it with preoperative OCT findings.Results: One hundred six patients underwent intraoperative assessments of posterior hyaloid status, with 72% (76/106) of the eyes showing positive staining. Sixty-two patients had also undergone preoperative OCT. Of the patients diagnosed with PVD on preoperative OCT, 50% (15/30) showed positive TA staining intraoperatively. The sensitivity of preoperative OCT assessment was 83.3%, and its specificity was 65.9%.Conclusion: Preoperative OCT imaging is associated with lower sensitivity and specificity for diagnosing PVD when compared to intraoperative TA staining.Keywords: optical coherence tomography, posterior hyaloid, posterior vitreous detachment, vitrectomy, vitreoschisis, triamcinolone acetonide

To study the natural history, anatomical and functional outcomes of persistent subretinal fluid (SRF) after pars plana vitrectomy (PPV) for diabetic tractional retinal detachment (TRD) and combined traction-rhegmatogenous retinal detachment (TRRD). Retrospective interventional case series of 43 patients (46 eyes) with persistent SRF following PPV for diabetic TRD or combined TRRD from January 2010 to December 2017 at single tertiary institution. Primary outcomes included best corrected visual acuity (BCVA) and central foveal thickness (CFT). Thirty-one eyes (67.4%) had macula-off TRD, 5 (10.9%) had fovea-threatening TRD and 10 (21.7%) had combined TRRD. The mean (± SD) duration of decreased vision was 48.0 ± 58.2 weeks. The mean follow-up duration was 21 ± 13.2 months. Residual macular SRF was detected by optical coherence tomography in all eyes at 3 months and in 10 eyes (23.8%) at 12 months after surgery. Only 3 eyes (6.5%) had persistent SRF at final follow up. The mean time to resolution was 10.6 ± 4.1 months [range 6.0–23.0]. Thirteen eyes received additional intervention to address SRF. The mean CFT gradually improved until final follow-up (P-value

Mucopolysaccharidosis (MPS) is a group of rare disorders that are characterized by intracellular accumulation of glycosaminoglycans with subsequent cellular and organ dysfunction. In the Middle East, especially Saudi Arabia, higher prevalence of MPS type I was observed compared to reported rates from European countries and the United States (U.S). The present work was developed as a part of the Saudi MPS Group’s efforts to address the current situation of MPS type I in Saudi Arabia and to reach a national consensus in the management of MPS type I. The first “Management of MPS Type I Advisory Board” meeting was held in Riyadh on May 2, 2019, to reflect the expert opinions regarding different aspects of MPS type I and develop this manuscript; eight consultants from different specialties (medical genetics, pediatric rheumatology, and pediatric endocrinology), representing six Saudi institutions, in addition to a global expert in genetics participated in the meeting.

Made available in DSpace on 2019-10-05T16:54:20Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-04-01 IRCCS Istituto Giannina Gaslini Background To our knowledge, the characteristics and burden of childhood arthritis have never been studied on a worldwide basis. We aimed to investigate, with a cross-sectional study, the prevalence of disease categories, treatment methods, and disease status in patients from across different geographical areas and from countries with diverse wealth status. Methods In this multinational, cross-sectional, observational cohort study, we asked international paediatric rheumatologists from specialised centres to enrol children with a diagnosis of juvenile idiopathic arthritis, according to International League of Associations for Rheumatology criteria, who were seen consecutively for a period of 6 months. Each patient underwent retrospective and cross-sectional assessments, including measures of disease activity and damage and questionnaires on the wellbeing and quality of life of the children. We qualitatively compared the collected data across eight geographical areas, and we explored an association between disease activity and damage and a country's gross domestic product (GDP) with a multiple logistic regression analysis. Findings Between April 4, 2011, and Nov 21, 2016, 9081 patients were enrolled at 130 centres in 49 countries, grouped into eight geographical areas. Systemic arthritis (125 [33.0%] of 379 patients) and enthesitis-related arthritis (113 [29.8%] of 379) were more common in southeast Asia, whereas oligoarthritis was more prevalent in southern Europe (1360 [56.7%] of 2400) and rheumatoid factor-negative polyarthritis was more frequent in North America (165 [31.5%] of 523) than in the other areas. Prevalence of uveitis was highest in northern Europe (161 [19.1%] of 845 patients) and southern Europe (450 [18.8%] of 2400) and lowest in Latin America (54 [6.4%] of 849), Africa and Middle East (71 [5.9%] of 1209), and southeast Asia (19 [5.0%] of 379). Median age at disease onset was lower in southern Europe (3.5 years, IQR 1.9-7.3) than in other regions. Biological, disease-modifying antirheumatic drugs were prescribed more frequently in northern Europe and North America than in other geographical settings. Patients living in countries with lower GDP had greater disease activity and damage than those living in wealthier countries. Damage was associated with referral delay. Interpretation Our study documents a variability in prevalence of disease phenotypes and disparities in therapeutic choices and outcomes across geographical areas and wealth status of countries. The greater disease burden in lowerresource settings highlights the need for public health efforts aimed at improving equity in access to effective treatments and care for juvenile idiopathic arthritis. Copyright (C) 2019 Elsevier Ltd. All rights reserved. Univ Genoa, Ist Giannina Gaslini, IRCCS, Clin Paediat & Rheumatol, Genoa, Italy Univ Genoa, Ist Giannina Gaslini, IRCCS, Epidemiol & Biostat Serv, Genoa, Italy Univ Genoa, Ist Giannina Gaslini, IRCCS, Sci Directory, Genoa, Italy Univ Genoa, PRINTO, IRCCS, Ist Giannina Gaslini, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy Wilhelmina Childrens Hosp, Dept Pediat Immunol & Rheumatol, Utrecht, Netherlands Sanjay Gandhi Postgrad Inst Med Sci, Lucknow, Uttar Pradesh, India Univ Hosp 12 Octubre, Dept Pediat Rheumatol, Madrid, Spain Alfaisal Univ, Dept Pediat Rheumatol, King Faisal Specialist Hosp, Riyadh, Saudi Arabia Alfaisal Univ, Res Ctr, Riyadh, Saudi Arabia Western Univ Childrens Hosp, Hlth Sci Ctr, London, ON, Canada Oslo Univ Hosp, Dept Rheumatol, Oslo, Norway Oslo Univ Hosp, Med Fac, Oslo, Norway Univ Oslo, Oslo, Norway Oslo Univ Hosp, Norwegian Natl Advisory Unit Rheumat Dis Children, Oslo, Norway Univ Hosp Munster, Dept Pediat Rheumatol & Immunol, Munster, Germany Hosp Sor Maria Ludovica, Rheumatol Serv, La Plata, Buenos Aires, Argentina Bucharest Emergency Hosp, Cluj Napoca, Romania Childrens Emergency Hosp, Cluj Napoca, Romania Cincinnati Childrens Hosp Med Ctr, Div Rheumatol, Cincinnati, OH 45229 USA Alberta Childrens Prov Gen Hosp, Div Pediat Rheumatol, Dept Pediat, Calgary, AB, Canada Sofiamed, Pediat Dept, Sofia, Bulgaria Rigshosp, Juliane Marie Ctr, Paediat Rheumatol Unit, Copenhagen, Denmark Natl Inst Rheumatism & Physiotherapy, Clin Immunol Adult & Paediat Rheumatol Dept, Budapest, Hungary Univ Latvia, Pediat Dept, Riga, Latvia Univ Latvia, Univ Childrens Hosp, Riga, Latvia Univ Estadual Paulista, Botucatu Fac Med, Botucatu, SP, Brazil Shariati Hosp, Rheumatol Res Ctr, Dept Pediat & Rheumatol, Tehran, Iran Inst Rheumatol Belgrade, Div Pediat Rheumatol, Belgrade, Serbia Thessaloniki Univ, Dept Pediat 1, Hippokrat Gen Hosp, Sch Med, Thessaloniki, Greece Univ Estadual Paulista, Botucatu Fac Med, Botucatu, SP, Brazil

Adams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in theTo report a novel homozygous variant in theCase report.We report a case of a 4-month-old male who presented with microcephaly, global developmental delay, truncal hypotonia, and limb reduction defects. Ophthalmic examination revealed bilateral nystagmus and retinal detachment with mild cataractous changes in addition to retrolental plaque in the left eye. Next generation sequencing analysis identified a novel homozygous frameshift likely pathogenic variant (c.1269_1285dup (p.Arg429Glnfs*32)) in theThe discovery of this new likely pathogenic variant enriches the genotypic spectrum of

Purpose To describe an infant with Adams Oliver syndrome (AOS) with ocular signs similar to familial exudative vitreoretinopathy. Observations A full-term female infant presented with a congenital scalp defect, hypoplasia of the fingers and toes along with a radial retinal fold in the right eye and tractional retinal detachment in the left eye. Fluorescein angiography findings included peripheral retinal nonperfusion, irregular vascular sprouting beyond the vascular-avascular junction, pinpoint areas of hyperfluorescence as well as late peripheral and posterior vascular leakage. The patient was clinically diagnosed with Adams Oliver syndrome based on the collective findings. Laser photocoagulation to the avascular retina was performed in both eyes which resulted in stabilization of the condition after 2 years of follow up. Conclusion and importance The ocular phenotype in AOS may be similar to familial exudative vitreoretinopathy. Therefore, suspicion of the diagnosis should prompt ophthalmic evaluation including fluorescein angiography to detect and possibly treat the ischemic retinopathy.

Leadership is conceptualized in various ways. In general, however, leadership is defined as a transaction between leaders and followers. In 2016, the College of Education at Sultan Qaboos University successfully obtained the international accreditation by the U.S. National Council for Accreditation of Teacher Education, which is now known as the Council for the Accreditation of Educator Preparation. Such achievement was recognized nationally by policymakers and was commended internationally by expert educators. In fact, the journey toward international accreditation was so challenging that without the contribution of sustained leadership it could not have been completed. The college leadership contributed considerably and played an inspirational role to achieve that goal. In the early stages of the process, the college leadership conducted a thorough needs assessment in which opportunities, assets, and risks were identified before a decision regarding seeking international accreditation was made. When national accreditation was first established in Oman, the college leaders focused on communicating the vision and mission clearly to the college faculty and administrative staff as well as students. This was followed by leading change within the institution through a careful inspection of the resources that could be deployed and the incentives that could successfully promote the new accreditation culture and build positive attitudes. Through forming teams of leaders within the institution as part of the distributed leadership, the college was able to set up an action plan in which various gaps could be covered. The college leadership adopted different approaches to lead the college, its faculty, staff, and students toward the attainment of international accreditation. A combination of distributed, transactional, and transformational leadership approaches was used by the college leadership in order pursue and accomplish accreditation. The college relied on the AASC as a form of distributed leadership. The AASC included faculty members with experience in academic accreditation and assessment and represented focal points for other faculty members. The college leadership restructured the roles and responsibilities of the Heads of Departments as a form transactional leadership to embed accreditation work within the normal flow of operations. The college provided constant feedback on performance, adhered to equity and equality principles, considered personal differences among staff and students, and responded to their diverse needs. As a form of transformational leadership, the college worked on creating the culture for accreditation, stimulating innovation and creativity, encouraging scholarship and research activities, and sharing potential risks. The college sought to build a community of practice by creating a positive collegial atmosphere for teamwork and capacity building. The adoption of a combination of successful leadership styles helped the college to overcome the potential ambiguity and conflict between academic duties of faculty and the demanding tasks of accreditation. Additionally, it helped faculty members, staff, and students to change from being passive observers to positive players. In short, the achievement of international accreditation, though a tough journey, was possible only because the college leaders thought it could come true and worked for it.

Purine nucleoside phosphorylase (PNP) deficiency accounts for about 4% of severe combined immunodeficiency diseases. PNP deficiency is a variable disease with recurrent infections and neurodevelopmental delay. Autoimmunity and malignancy can still occur in one-third of patients. Case report. An 8-year-old Saudi female who was apparently healthy presented at the age of 7 years with confirmed systemic lupus erythematosus (SLE) and lupus nephritis that were poorly controlled with conventional therapy. She also had frequent sinopulmonary and varicella infections. Preliminary immunological workup showed severe lymphopenia and depressed lymphocyte proliferation assay. The uric acid was within normal levels at 179 μmol/L (normal range, 150 to 350 μmol/L) 6 weeks after blood transfusion. Genetic study revealed a homozygous missense mutation c.265G>A in the PNP gene, resulting in a substitution of glutamic acid to lysine at amino acid 89 of the encoded protein (E89K). The PNP serum level was 798 nmol/h/mg (normal level 1354 ± 561 nmol/h/mg) 6 weeks after blood transfusion. Hematopoietic stem cell transplantation (HSCT) was planned from a matched unrelated donor; however, she developed an EBV and varicella meningoencephalitis. Atypical malignant cells suggestive of lymphoma were discovered, likely induced by EBV, and suspicious lesions were shown on brain MRI and PET scan. Unfortunately, she passed away before HSCT due to multiorgan failure. This report emphasizes the challenges in recognizing PNP deficiency in a patient suffering from SLE.

Made available in DSpace on 2021-06-25T10:38:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-11-01 Healthway Objective. To develop a composite disease activity score for systemic JIA (sJIA) and to provide preliminary evidence of its validity. Methods. The systemic Juvenile Arthritis Disease Activity Score (sJADAS) was constructed by adding to the four items of the original JADAS a fifth item that aimed to quantify the activity of systemic features. Validation analyses were conducted on patients with definite or probable/possible sJIA enrolled at first visit or at the time of a flare, who had active systemic manifestations, which should include fever. Patients were reassessed 2 weeks to 3 months after baseline. Three versions were examined, including ESR, CRP or no acute-phase reactant. Results. A total of 163 patients were included at 30 centres in 10 countries. The sJADAS was found to be feasible and to possess face and content validity, good construct validity, satisfactory internal consistency (Cronbach's alpha 0.64-0.65), fair ability to discriminate between patients with different disease activity states and between those whose parents were satisfied or not satisfied with illness outcome (P < 0.0001 for both), and strong responsiveness to change over time (standardized response mean 2.04-2.58). Overall, these properties were found to be better than those of the original JADAS and of DAS for RA and of Puchot score for adult-onset Still's disease. Conclusion. The sJADAS showed good measurement properties and is therefore a valid instrument for the assessment of disease activity in children with sJIA. The performance of the new tool should be further examined in other patient cohorts that are evaluated prospectively. UOC Clinica Pediatrica e Reumatologia IRCCS Istituto Giannina Gaslini Dipartimento di Neuroscienze Riabilitazione Oftalmologia Genetica e Scienze Materno-Infantili (DiNOGMI) Università degli Studi di Genova Dipartimento di Epidemiologia e Biostatistica IRCCS Istituto Giannina Gaslini Faculty of Medicine Ain Shams University Pediatric Rheumatology Division Institute of Child Health Section of Pediatric Rheumatology SRCC Children's Hospital Rheumatology Division Pediatric Department Faculty of Medicine Ramathibodi Hospital Mahidol University Pediatric Rheumatology Clinic R G Kar Medical College Division of Rheumatology IRCCS Ospedale Pediatrico Bambino Gesù Division of Pediatric Rheumatology Institute of Child Health Sir Ganga Ram Hospital Faculty of Medicine Benha University Faculty of Medicine Alexandria University Faculty of Medicine Tanta University Faculty of Medicine Cairo University Pediatric Rheumatology Division Adolescent Health Care Unit Universidade do Estado do Rio de Janeiro Department of Internal Medicine Universidade Federal do Rio de Janeiro Servicio de Inmunología y Reumatología Hospital de Pediatría Garrahan Department of Clinical Sciences and Community Health University of Milan Division of Rheumatology University Hospital Meyer Rheumatology Division National Medical Research Center of Children's Health Sechenov First Moscow State Medical University Department of Immunology Rheumatology and Allergy Queen Rania Children's Hospital Saint-Petersburg State Pediatric Medical University UOC Pediatria a Media Intensità di Cure Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Rheumatology Department Faculty of Medicine Suez Canal University Department of Pediatrics King Faisal Specialist Hospital and Research Center Dipartimento Promise G. D'Alessandro Università degli Studi di Palermo Pediatric Department Hospital das Clínicas Botucatu Medicine University UNESP UOC Pediatria Servizio di Immuno-Reumatologia Pediatrica Azienda Ospedaliera Universitaria Gaetano Martino Messina UO Nefrologia e Reumatologia Pediatrica Azienda Ospedaliera Universitaria Gaetano Martino Department of Pediatrics School of Medicine Institute of Medical Pharmaceutical and Health Sciences Kanazawa University Pediatric Unit Ospedale Vito Fazzi Pediatric Unit AON SS Antonio e Biagio e Cesare Arrigo Children's Hospital Pediatric Department Hospital das Clínicas Botucatu Medicine University UNESP

Purpose: To describe two young Saudi brothers with bilateral progressive retinal arterial aneurysms and a subtotal exudative retinal detachment with Coats-like presentation in the older sibling as the initial presentation of Familial Retinal Arterial Macroaneurysms (FRAM). Observations: Two young Saudi brothers with a family history of consanguinity presented with the classic clinical presentation and genetic identification of FRAM. In this report, we describe the presence of prominent peripheral retinal capillary changes mimicking Coats' disease. Conclusions and importance: FRAM can present similar to bilateral Coats' disease and should be considered in the differential diagnosis of Coats-like retinopathy. The diagnosis of FRAM may have a significant implication because of the associated cardiac abnormality, such as supravalvular pulmonary stenosis, which should be evaluated by echocardiography and managed accordingly. Keywords: Familial retinal arterial macroaneurysms (FRAM), Insulin-like growth factor binding protein 7 (IGFBP7), Supravalvular pulmonic stenosis, Coats’-like retinopathy, Retinal arterial aneurysms

A 9-year-old boy with the diagnosis of Sturge-Weber Syndrome, and port-wine stain involving the right side of the face, presented with acute visual loss of the right eye. Examination revealed a high intraocular pressure and a combined cilioretinal artery and inferior hemi-retinal vein occlusion in the right eye. Systemic work-up was negative. After controlling the intraocular pressure, gradual improvement of vision was noticed with simultaneous disappearance of signs of vascular occlusion. Keywords: Retinal artery occlusion, Retinal vein occlusion, Sturge-Weber syndrome, Glaucoma