bluuebunny/crossref_metadata_2025_split huggingface dataset:
E05 Is subchondral bone marrow edema predictive of bone mineral density loss in juvenile idiopathic arthritis?
Authors: Ferjani H , Kharrat L , Ben Nessib D , Rabhi E , Maatallah K , Kaffel D , Hamdi W 
Published: August 2023

Abstract

Introduction
Inflammation plays a crucial role in impaired bone metabolism [1]. Subchondral bone marrow oedema (BME) in Magnetic Resonance Imaging (MRI) was associated to bone mineral density (BMD) loss in adult spondyloarthritis [1]. BME was less studied in juvenile idiopathic arthritis (JIA).

Objectives
We aimed to study the link between MRI BME and BMD in JIA patients.

Methods
We conducted a retrospective study of 44 patients with JIA who fulfilled the International League of Associations for Rheumatology (ILAR) 2001 criteria. For each patient we collected the following data: age, age at the onset of JIA, JIA subtype, disease duration, C-reactive protein (CRP) and Erythrocyte sedimentation rate (ERS) levels, BMD assessed using bone densitometry and MRI. Disease activity was assessed using the JADAS score.
Statistical analysis was performed using SPSS software.

Results
We included 28 boys and 16 girls. The mean age was 13.65 ± 4.62 years. The mean age at the onset of the disease 9.57 ± 3.97 years. The mean disease duration was 4.34 ± 3.09 years. There was enthesitis-related arthritis in 61% of the cases (n = 27), oligoarticular JIA in 14% of the cases (n = 6), polyarticular JIA in 11% of the cases (n = 5), and psoriatic arthritis in 7% of the cases (n = 3). JIA was undifferentiated in 7% of the cases (n = 3).
The mean CRP and ESR were 14.42 ± 19.67 mg/l and 26.56 ± 20.87 mm, respectively.
The mean JADAS was 6.6 ± 4.7. Bone densitometry was performed in 17 patients. The mean BMD and the mean Z-score were 0.961 ± 0.128 g/cm2 and -0.4 ± 1.16 standard deviation, respectively.
Magnetic resonance imaging (MRI) showed BME in 52% of the patients (n = 23). Bone marrow oedema was present in the sacroiliac joints in 43% of the cases (n = 19), in the coxofemoral joints in 27% of the cases (n = 12), and in the spine in 9% of the cases (n = 4).
The presence of BME was associated with a higher ESR (32.71 ± 25.71 vs 18.94 ± 10.72 mm, P = 0.032), higher JADAS (8.01 ± 5.36 vs 4.75 ± 3.29, P = 0.023), and a lower Z-score (-1.3 ± 0.77 vs 0.4 ± 0.8 standard deviation, P = 0.001).

Conclusion
Our study showed that MRI BME was associated with high disease activity and BMD loss in JIA patients. This result is consistent with those of Akgöl et al. [2]. Bone marrow oedema seems to predict BMD loss in JIA and should lead to optimizing the treatment.

References
[1]. Wang D, Hou Z, Gong Y, Chen S, Lin L, Xiao Z. Bone oedema on magnetic resonance imaging is highly associated with low bone mineral density in patients with ankylosing spondylitis. PLoS One 2017;12:e0189569.
[2]. Akgöl G, Kamanlı A, Ozgocmen S. Evidence for inflammation-induced bone loss in non-radiographic axial spondyloarthritis. Rheumatology 2014;53:497–501.
E35 Achondroplasia: delayed diagnosis of a severe, complicated form
Authors: Rahmoune Hakim , Boutrid Nada , Soualili Zineddine 
Published: August 2023

Abstract

Introduction
Achondroplasia is the most common form of chondrodysplasia. It manifests by marked rhizomelia, hyperlordosis, brachydactyly and macrocephaly with large, prominent forehead and mid-face hypoplasia.

Objective
To describe a case of achondroplasia with delayed diagnosis and severe extra-skeletal complications.

Result
An eight-year-old girl, diagnosed with a bilateral pulmonary ecchinococcosis, was referred for thoracic surgery and a pediatric opinion was required. Physical examination revealed a severe juvenile form of achondroplasia with marked restriction of opening of the mouth and sleep apnea. Pulmonary function tests showed a mild restrictive lung disease.
Her skeletal radiological survey showed the classic signs of achondroplasia and a bilateral coxa vara.
Thoracic surgery was successfully scheduled with a multidisciplinary team encompassing pediatric surgeons, pediatricians, anesthesiologists and specialized nurses. A dedicated ENT and pulmonology team managed her sleep apnea and respiratory disorder respectively, while pediatric orthopedic team managed the hips.

Discussion
Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene encoding a transmembrane receptor important among other things in the regulation of linear growth of long bones. Diagnosis is mainly based on the presence of specific clinical and radiological features. Strict adherence to recommendations for perioperative and surgical care are essential.

Conclusion
The management of achondroplasia is multidisciplinary, and supportive measures are more than crucial; especially in particular situations, such as anesthesia and surgery, that require additional precautions with prudent perioperative management and prolonged postoperative care.
Evidently, long term follow-up of the respiratory and musculoskeletal systems is essential.
The life expectancy of such patients is close to that of the general population, but patient’s and family’s quality of life is highly impacted.

Ethics
Parental consent taken before case reporting.
E38 Pediatric dermatomyositis, what specificities
Authors: Kamelia Okka , Dehimi A , Fellahi M , Messasset M , Benarab Z , Bouabdallah S , Bioud B 
Published: August 2023

Abstract

Introduction
Dermatomyositis is a rare disease. In children the incidence is 2–3 per million population. It is a potentially serious disease whose mortality is &lt; 5%, but whose complications and long-term prognosis remain poor for some children.

Objectives
We report the epidemiological, clinical, therapeutic and evolutionary characteristics of a retrospective case series of 14 children with dermatomyositis seen at the pediatric center of Setif (Algeria).

Materials and methods
The average age of onset is 8 years (0–15 ½ years), The sex ratio (M/F) was 0.21; The mean duration of symptoms prior to diagnosis was 4.4 months. At the time of diagnosis, 100% of children had skin rash, 84% eyelid telangiectasia, 40% Gottron's papules, 90% muscle weakness, 40% arthritis, 13% fever, and 25% dysphagia. The muscle enzymes were elevated in all, FAN positive in 6 cases, anti-DNA was positive in a single patient with overlapping myositis. The electromyogram cames myogenic for all our 14 patients, 10 patients had muscle biopsy with report of non-specific interstitial and parenchymal myositis Therapeutic regimens were variable, they depended on the severity of the initial picture, Nevertheless all of the children were treated with first-line corticosteroids (100%), methotrexate was prescribed in 12 cases (85%); Mycophenolate mofetil and Rituximab in one patient, and bisphosphonate in a single child with extensive calcinosis.
Polyvalent immunoglobulins were used for 4 cases with swallowing disorders and calcinosis (28%), 4 patients had calcinosis as complication (28%), only one child died from aspiration pneumonitis.

Discussion
The diagnosis is made according to the criteria of Bohan and Peter, given the non-specificity of the muscle biopsies. The clinical and evolutionary characteristics of our serie are consistent with the overall data in the literature with a predominance of skin and muscle involvement. However, some specificities were individualized such as the case of myositis overlapping with lupus. The treatment is essentially based on corticosteroid therapy and methotrexate.

Conclusion
Juvenile dermatomyositis is a rare serious and chronic condition requiring multidisciplinary management.

Ethics
Associate Professor of pediatrics, department of medicine University Setif-Algeria (pediatric center –Setif-Algeria)
E39 Hepatocellular insufficiency and systemic lupus; what is the relationship?!!
Authors: Kamelia Okka , Dehimi A , Fellahi M , Messasset M , Benarab Z , Bouabdallah S , Bioud B 
Published: August 2023

Abstract

Introduction
Systemic lupus erythematosus (SLE) can be associated with several nonspecific hepatic manifestations, but acute lupus hepatitis remains uncommon and rarely constitutes a revelation mode.

Objectives
To report a case of systemic lupus presented by hepatocellular insufficiency.

Materials and methods
The patient was eleven years old when admitted in 2017 for investigation of hepatocellular failure. Physical examination: mucocutaneous jaundice with dark urine without other abnormalities. The biological assessment revealed significant hepatic cytolysis, cholestasis, as well as a biological inflammatory syndrome, polyclonal hypergammaglobulinemia predominant on gamma globulins. Urinary sediment and blood count were normal. Ultrasound and hepatosplenic Doppler showed signs of chronic liver disease: portal hypertension and moderate ascites. Cardiac ultrasound showed pericardial effusion. We carried out an etiological assessment comprising: an exhaustive questioning having eliminated any drug or toxic intake. The serologies for viral hepatitis A, B and C were negative. The search for non-organ-specific anti-tissue antibodies (anti-smooth muscle, anti-mitochondria and anti-LKM1) were negative, as well as a cupric balance. Antinuclear antibody was positive with a titre of 1/1000, anti-DNA was positive (&gt; 866 IU/ml), C3, C4 and CH50 were low, and antiphospholipid antibodies were positive. The diagnosis of systemic lupus erythematosus was made. The patient was on corticosteroid therapy and immunosuppressant. The evolution was marked by the progressive improvement of the hepatic balance sheet.

Discussion
Although hepatic involvement during SLE is not part of the diagnostic criteria, abnormal liver function tests are frequent, ranging from 23% to 60% depending on the series in the literature. However, SLE-specific liver disease or lupus hepatitis is rare, observed in 1% to3% according to the literature. Our patient was symptomatic with hepatocellular insufficiency.

Conclusion
Lupus hepatitis is a rare manifestation of SLE and constitutes a rare presenting mode that should not be overlooked.

Ethics
Associate Professor of pediatrics, department of medicine University Setif-Algeria (pediatric center –Setif-Algeria).
E45 Kawasaki syndrome-related heart disease before and during the COVID-19 pandemic
Authors: Guedri R , Jelassi A , Glai M , Hrizi Houcem , Essaddam L , Fitouri Z , Ben Becher S 
Published: August 2023

Abstract

Introduction
Kawasaki disease (kDa) is an acute febrile systemic panvascularitis that affects medium-caliber arteries with a strong predilection for the coronary arteries. It is the leading cause of acquired heart disease in children under 5 years of age. However, after the COVID-19 pandemic, we see a change in the profile of cardiac involvement.

Objective
To describe the clinical, paraclinical, and evolutionary characteristics of cardiac damage in children managed for Kawasaki or Kawasaki-Like syndrome before and during the Covid19 pandemic.

Materials and Methods
This is a retrospective, descriptive study conducted over a period of five years (1st January 2017 to 31st December 2021).

Result
We collected 30 cases of patients hospitalized with Kawasaki disease, between January 2017 and December 2021: 11 cases with Kawasaki syndrome before COVID-19; and 19 cases with Kawasaki syndrome after COVID-19. The mean age and standard deviation (SD) at diagnosis was 42 (±37.8) months before the pandemic vs 81 (±34.7) months after the pandemic. The sex ratio was 0.5 (4 girls and 7 boys) before the pandemic vs 0.7 (8 girls and 11 boys) after the pandemic. Heart damage was found in 2 cases before the pandemic (coronary aneurysm type) vs 3 cases after the pandemic, mainly cardiogenic shock. The mean time from the first transthoracic ultrasound to fever was 11.3 days before the pandemic, vs 5.8 days after the pandemic. Transthoracic ultrasound showed 2 cases of coronary aneurysm before the pandemic, with a Z score exceeding 2.5SD; vs 7 cases of heart failure after the pandemic with a decrease in left ventricular ejection fraction. The ASAI score (a score that assesses the risk of coronary artery disease) was &gt;6 in 1 case before the pandemic vs in 0 cases after the pandemic. The average predictive score for cardiac involvement was 4.2 (±1.4) before the pandemic, vs 3.5 (±1.5) after the pandemic. The outcome was favorable in all cases despite a more severe picture after the COVID-19 pandemic.

Conclusion
The change in the pattern of cardiac involvement in Kawasaki disease following the emergence of COVID-19 must be taken into account in order to manage an influx of patients with severe Kawasaki disease.
E53 Anti-OJ synthetase syndrome: a pediatric case report
Authors: Hadef Djohra , Ouchen Yamina , Khedri Afaf , Saadi Rayene , Bezziou Khadija 
Published: August 2023

Abstract

Introduction
The antisynthetase syndrome (ASS) is a connectivity with variable clinical expression. It is defined by the presence of anti-tRNA synthetase autoantibodies, associated with a clinical phenotype. It is an overlapping myositis associated with the presence of idiopathic inflammatory myopathy autoantibodies.

Observation
We report the case of an 11-year-old girl with no particular family history. The patient was diagnosed and treated as rheumatic fever 3 years ago and put on extencillin due to arthralgias of large right knee and hip joints with positive antistreptolysin O antibodies and history of repeated angina but without clinical improvement. The polyarthralgias progressed and became bilateral predominantly in the scapular and pelvic girdles associated with intense myalgias of three days before his admission leading to a motor deficit. A biological assessment was requested: creatine phosphokinase (CPK) = 1880UI/l; ASAT = 58UI/l; procalcitonin = 0.15; erythrocytesedimentation rate (ESR) was elevated. The immunological workup showed antibodies specific for myositis; antiRNA synthetase type OJ Positive. Results of immunological tests for other associated autoimmune diseases were (rheumatoid factor, anti-CyclicCitrullinated Peptide antibodies, anti SM and anti-Native DNA) negative. Electromyography showed no abnormalities. A muscle biopsy was not done. Chest CT scan showed no abnormalities. The patient was commenced on corticosteroid therapy at a dose of 1 mg/kg/day for 4–6 weeks then progressive weaning.

Conclusion
ASS is a complex and heterogeneous autoimmune connective disease. In the presence of extra-pulmonary signs and the positivity of the anti-tRNA synthetase antibody, the diagnosis is confirmed. The management often requires multidisciplinary approach.
E54 The Ehlers-Danlos syndrome, a disease of late diagnosis: report two cases
Authors: Rahmoune A , Ferhat A , Bahaz N , Dahou-Makhloufi C 
Published: August 2023

Abstract

Introduction
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of rare inherited collagen disorders. Clinical signs are dominated by generalized joint hyper laxity, skin hyper elasticity and tissue fragility. The diagnosis is clinical in the absence of genetic testing. There is no curative treatment but it is possible today to improve the quality of life of these patients.
We report two cases of EDS from a non-consanguineous marriage, without similar cases in their families.

Observations
CASE 1: Mrs N.B, 31 years old, 2nd of 4 siblings, with a history of heterozygous beta thalassemia, she presented with mechanical gonalgias secondary to patellar dislocations associated with ankle sprains since the age of 5 years.
On clinical examination: generalized hyper mobility (Beighton score 9/9), hyper elasticity of the skin, skin fragility, atrophic scarring, papery skin of the knees, hyper transparency of the skin, epistaxis at the slightest scratching, the rest of the somatic examination was unremarkable.
The standard biological workup, X-ray and ultrasound of the knees and ankles were without abnormalities.
Classic EDS (I and II) was retained according to the 2017 international classification.
The patient responded to tier I analgesics.

Case 2
Mrs B.L, 24 years old, the third of five siblings, with a history of bronchial asthma, presented with bilateral and symmetrical polyarthralgia affecting the large and small joints with mixed type spinal pain associated with spontaneous myalgia in a context of profound asthenia evolving for 14 years.
On osteoarticular examination, generalized joint hypermobility was noted (Beighton score 9/9); on the cutaneous level, transparency and hyperextensibility of the skin with multiple ecchymoses due to tissue fragility associated with delayed healing with cutaneous hyperesthesia, all associated with exertional dyspnea, chronic abdominal pain and gastroesophageal reflux since the onset of his illness.
Biologically, no inflammatory syndrome. The autoimmune workup (RF, ACPA, FAN) was negative and other investigations were without abnormalities.
X-rays of the chest, hands, wrists and knees were unremarkable.
The patient was classified as having hypermobile EDS (type III) according to the international classification of the disease. The patient responded only partially to analgesics (levels I, II and III) and to tricyclic antidepressants.

Conclusion
The diagnosis of EDS must be made early in order to ensure optimal symptomatic management. The management must be multidisciplinary, including an evaluation, a psychological follow-up, a treatment of the pain and physiotherapy.
E57 Osteogenesis imperfecta: about a series of twelve cases in Batna (Algeria)
Authors: Hadef Djohra , Bouhidel Jalaleddine Omar , Zerguine Halima , Hasni Hakima , Gourmat Khaoula , Baaziz Hadda , Khernane Nacer 
Published: August 2023

Abstract

Introduction
Osteogenesis imperfecta (OI), also known as glass bone disease, is a rare inherited disorder characterized by bone fragility and osteopenia. It combines skeletal signs of variable severity (mainly fractures, ligament hyperlaxity, dentinogenesis imperfecta and bone deformities), and inconsistent extra-skeletal signs (such as blue sclerae, deafness and vascular fragility).

Aim
To describe the epidemiologic, clinico-radiologic and therapeutic profile of OI in our department.

Methods
This is a retrospective study of 12 cases of OI collected in the department of Pediatrics of CHU Benflis Touhami Batna during a 6-year study period from 2014 to 2022.

Results
Twelve patients with OI were seen. Five patients were male and eight were female. The mean age at diagnosis was 6 years [1,16 years]. In 67% of cases, our patients were from a consanguineous marriages. Clinical signs were dominated by bone deformities with a history of multiple fractures following minimal trauma. Delayed weight-bearing was noted in five children; blue sclera was found in three children. Confirmation of the diagnosis was aided by radiological findings of diffuse bone demineralization, fracture lines, pelvic and limb deformity, cortical thinning, small ribs and biconcave compression of vertebrae. Bone densitometry showed osteoporosis in 70% of the patients and osteopenia in the rest. All patients were put on biophosphonates. Conclusion Osteogenesis imperfecta is a rare pathology, but it is serious, especially because of the functional disability it induces, hence the importance of an early diagnosis and prompt treatment.
E63 Prevalence and risk factors of low bone mineral density and fractures in children with beta-thalassemia
Authors: Bengana Bilal , Yacoub Saidi , Kheireddine Aggoun , Selma Abdellaoui , Guerboukha Hamida , Boukabous Abdenour , Lefkir-Tafiani Salima 
Published: August 2023

Abstract

Background
Declining bone mineral density can affect children and lead to an increased risk of fractures. Moreover, it is an important cause of morbidity and mortality in people with beta-thalassemia. However, the prevalence of osteoporosis and bone fractures in a young population with beta-thalassemia remains uncertain.

Objective
To investigate the prevalences of low bone density and fractures among beta-thalassemia young patients (homozygous form) and to identify clinical and laboratory factors that are associated with these conditions.

Methods
We collected data of all childrens with beta-thalassemia who were followed up in the hematologic clinic. They were screened to measure bone mineral density (BMD) using the dual energy X-ray absorptiometry (DXA). A retrospective chart review was performed to report the lifetime prevalence of bone fractures and clinical associations with patient data.

Results
We examined 67 young patients with beta-thalassemia, 6–16 years old (median: 12 years). Low BMD was found in 10.8% (spine) and 32% (total body). Multiple regression analysis showed that BMD was predicted by Z-scores for height and weight at DXA. History of splenectomy was associated with lower BMD. Patients with a history of fractures had lower Z-scores for spine BMD (-2.30 vs -0.58, P = 0.01) and total-body BMD (-1.90 vs -0.87, P = 0.04) compared with those without a history of fractures.
Patients with spine BMD Z-score of up to -2 SD score had significantly increased prevalence of fractures compared with those with Z-score more than -2 SD score (10 vs 5%, P = 0.02).
Factors associated with lower mean BMD Z-score were history of splenectomy, vitamin D deficiency when the factors associated with bone fractures were male sex (RR 1.52, 95%CI 1.22–3.21) and haemoglobin level below 7 g/dl (RR 1.76, 95%CI 1.31–4.22).

Conclusion
This study provides information on risk factors for low BMD in pediatric beta-thalassemia. The results reveal the association between low BMD and a history of splenectomy and vitamin D deficiency, and the relationship between bone fractures in boys especially with low BMD.