الملخص
Objective@#To report the frequency of selected autoantibodies and their associations with clinical features in Arab children with monogenic lupus. @*Methods@#This study was retrospective single-center study of genetically confirmed monogenic lupus cases at childhood lupus clinic at King Faisal Specialist Hospital and Research Center, from June 1997 to July 2022. We excluded familial lupus without genetic testing and patients with insufficient data. Collected data comprised clinical and laboratory findings, including the autoantibody profile, which included the anti-double-stranded DNA (anti-dsDNA), anti-Smith, anti–Sjögren's-syndrome-related antigen A (anti-SSA), anti–Sjögren's-syndrome-related antigen B (anti-SSB), and antiphospholipid (APL) antibodies. Also, disease activity and accrual disease damage were collected at the last follow-up visit. @*Results@#This study enrolled 27 Arab patients (14 males) with a median age of 11 years (interquartile range 8.0~16 years), with 63% having early-onset disease. The consanguinity rate and family history of lupus were high (74.1% and 55.6%, respectively).The most frequent clinical features were hematological (96.3%), fever (81.5%), mucocutaneous lesions (85.2%), and renal (66.7%).The frequency of the APL antibodies was 59.3%, anti-dsDNA was 55.6%, and anti-Smith and anti-SSA were 48.2% and 44.4%, respectively. Moreover, dsDNA antibodies were significantly associated with musculoskeletal complaints (p<0.05). Likewise, both anti-Smith and anti-SSA antibodies were linked to failure to thrive and recurrent infections in the univariate analysis (p<0.05). @*Conclusion@#Our study reveals autoantibody frequencies and their association with clinical and prognostic in a substantial monogenic lupus cohort. Distinct clinical manifestations and prognosis association with certain autoantibodies support the idea that monogenic lupus is a distinctive form of lupus. Larger studies needed to validate these findings.
الملخص
Genetic defects of SLC29A3 result in a wide range of syndromic histiocytosis that encompasses H syndrome. Patients with SLC29A3 variants typically have hyperpigmentation, hypertrichosis, hepatosplenomegaly, sensorineural hearing loss, diabetes mellitus, and hypogonadism. Herein, we identify a novel phenotype in a girl presenting with clinical and laboratory findings similar to systemic juvenile arthritis and hyperferritinemia. Exome sequencing identified a homozygous variant in SLC29A3 (NM_018344.5: c.707C>T [p.T236M]). Our patient did not show the cardinal features of the broad spectrum of SLC29A3-related disorders. She demonstrated remarkable improvement in her clinical and laboratory manifestations after starting interleukin-1 blockade (Anakinra). Recent research suggests that SLC29A3-related disorders are accompanied with autoinflammation and autoimmunity due to an overactive inflammasome pathway, which is most likely induced by mitochondrial and lysosomal dysfunction. Hence, our findings may expand the phenotypic features of the SLC29A3 variant. Patients with the SLC29A3 variant and systemic inflammation may benefit from interleukin-1 blockade as a therapeutic option.
الملخص
@#Antibiotics which once a boon in medicine and saved millions of lives are now facing an ever-growing menace of antibacterial resistance, which desperately needs new antibacterial drugs which are innovative in chemistry and mode of action. For many years, the world has turned to natural plants with antibacterial properties to combat antibiotic resistance. On that basis, we aimed to identify plants with antibacterial and antibiotic potentiating properties. Seventeen different extracts of 3 plants namely Burkillanthus malaccensis, Diospyros hasseltii and Cleisthanthus bracteosus were tested against multi-drug resistant Acinetobacter baumannii, Escherichia coli, Pseudomonas aeruginosa, Klebsiella pneumoniae, Methicillinresistant Staphylococcus aureus (MRSA) and methicillin-susceptible Staphylococcus aureus (MSSA). Antibacterial activity of hexane, methanol and chloroform extracts of bark, seed, fruit, flesh and leaves from these plants were tested using, disk diffusion assay, minimum inhibitory concentration (MIC) and minimum bactericidal concentration (MBC) assays. Antibiotic potentiating capabilities were tested using time-kill assay. B. malaccensis fruit chloroform extract showed the biggest zone of inhibition against MRSA (13.00±0.0 mm) but C. bracteosus bark methanol extract showed the biggest inhibition zone against MSSA (15.33±0.6 mm). Interestingly, bark methanol extract of C. bracteosus was active against MRSA (8.7±0.6 mm), MSSA (7.7±0.6 mm) (Gram-positive) and A. baumannii (7.7±0.6 mm) (Gram-negative). Overall, the leaf methanol and bark methanol extract of C. bracteosus warrants further investigation such as compound isolation and mechanism of action for validating its therapeutic use as antibiotic potentiator importantly against MRSA and A. baumannii.
الملخص
Mixed neuroendocrine non-neuroendocrine neoplasm (MiNeN) is a recently described entity of the esophagus in the latest (fifth) edition of WHO Classification of Digestive System Tumors. It is often a difficult pathological diagnosis, especially in small preoperative biopsies. We herein report a case of high-grade MiNeN of gastroesophageal junction diagnosed as a squamous cell carcinoma in preoperative biopsy and subsequently as a high-grade MiNeN in esophagogastrectomy specimen comprising areas of mucoepidermoid carcinoma and large-cell neuroendocrine carcinoma (NEC). This report accentuates the importance of deeper multisite preoperative biopsies as the management is completely different in a MiNeN from esophageal squamous cell carcinoma.
الملخص
Introduction: A modified frenal treatment for aberrant frenum is presented in this report to reduce scar tissue formation and maintain the attached gingiva. Description: The case report describes two cases in which a V-shaped incision removed the aberrant frenum and then the flaps of the frenum were sutured at the mid line. Results: The results showed reduced scar tissue in the mid line and the tissue healed with adequate attached gingiva. Take-Away Lessons: The modified frenotomy technique presented here is ideal for a large frenum that could expose the underlying connective tissue that could reduce the scar tissue formation.
الملخص
Background: Homozygous sickle cell disease (HSCD) is the most common inherited blood disorder of public health importance worldwide, with Sub-Saharan Africa accounting for a third of the global burden. The effect of HbS on the kidneys results in sickle cell nephropathy, which contributes to increased mortality among HbSS patients beyond third decade of life. Glomerular filtration rate (GFR) is an important renal function test for evaluating progress of sickle cell nephropathy, however, this is seldom done to HbSS patients especially in the insurgency that devastated the North-eastern part of Nigeria, where displacement of people has led to increase in diarrhoeal diseases with its complications which also contributes to renal diseases, hence the need for this study. Objective: To determine the baseline glomerular filtration rate of homozygous SCD in steady state and compare same with normal controls. Methods: This is a prospective comparative study conducted at the University of Maiduguri Teaching Hospital (UMTH). The study population consisted of age and sex matched HbSS subjects in steady state and children with haemoglobin AA genotypeaged 3-14 years. The study was conducted over a period of 6 months. Anthropometry and serum creatinine of the subjects were determined and GFR calculated using Schwartz formula. Results: Two hundred and twenty children consisting 110 HbSS and 110 controls were enrolled. This consist of 106 males and 114 females with M:F ratio of 0.9:1. Mean ages of HbSS patients and HbAA subjects were 8.2years and 7.9 years respectively. The mean GFR (SD) was 125.9 (31.9) ml/min/1.73m2 and 93.0 (16.1) ml/min/1.73m2 for the HbSS and HbAA controls, the difference between the means was significant (P<0.001). The normal GFR range for the controls was 77 to 109 ml/min/1.73m2. Sixty-seven (61%) casesand 86 (78%) controls had GFRs within normal range. There was statistically significant difference for GFRs above and below the normal range (Z-score=6.2 & -2.9, p<0.001 & p<0.004). Conclusion: About a third of HbSS children in steady state have elevated GFR, this suggests the presence of moderate renal pathology. Regular monitoring of these children will lead to improvements in management of sickle cell nephropathy and their quality of life
الموضوعات
Anemia, Sickle Cell , Glomerular Filtration Rate , Homozygote , Magnetic Resonance Imaging , Nigeriaالملخص
ABSTRACT: This study determined the levels of some heavy metals at resident and remediated soils of uncontrolled gold mining activities with a view to providing information on the extent of contamination and ecological risk to the resident area. The soil samples were collected from two site at the resident and one remediated soil, and analyzed for metals (Cr, Ni, Pb, Fe, Cu, Cd and Mn) using Atomic Absorption spectrophotometer (AAS). The concentrations of heavy metals (mg/kg) in residents samples ranged from 1.500-13.30 (Cr), 0.0001-0.05 (Ni), 0.18- 3.754 (Pb), 0.0003-0.10 (Fe), 0.0005-0.88 (Cu), 0.0009-0.27 (Cd) and 0.0003-0.0035 (Mn) and for the remediated sample are 12.3000, 0.0001, 1.1989, 0.0002, 0.0006, 0.0003, and 0.0003 for Cr, Ni, Pb, Fe, Cu, Cd and Mn respectively. The calculated geo-accumulation index (Igeo) shows that the soil samples fall under unpolluted to moderately pollute for all the studied metals with respect to all studied sites. Pollution Load Index values (PLI>1) were all less than 1 for each metals in all studied sites, thus indicating perfection. The contamination factor (Cf) and degrees of contamination (Cd) of the soil samples were very slightly contaminated to slightly contaminated with Cr and Cd; The ecological risk results revealed that site A, B and Remediated samples were fall under low ecological risk index with values of 0.28, 10.28 and 0.33 respectively. The contaminations of these studied metals may not add ecological risk to the local environment
الموضوعات
Metals, Heavy , Nigeriaالملخص
A 10-month-old infant with the diagnosis of retinal cavernous hemangioma involving the macula presented with an outward deviation of the right eye that has been noticed by her parents. Examination revealed a clearing vitreous hemorrhage, and grape-like clusters filled with blood in the posterior pole. After 4 cycles of intravenous infliximab over the period of 3 months, no evident change was noted on the size of the cavernous hemangioma
الملخص
To describe systemic lupus erythematosus [SLE] features among Arab children, and compare with cohorts from different ethnicities. This retrospective analysis of all published English literature on SLE in Arab children was conducted in March 2013. The percentage and frequencies of the clinical and laboratory features were collected, and compared between different Arab countries as well as Caucasian and South East Asian cohorts. A total of 560 children from 5 Arab cohorts with an average age at diagnosis of 10 years; 7.7% of patients were diagnosed before the age of 5 years. Familial SLE was frequent. Most patients had major organ involvement. Renal involvement was diagnosed in 80%, while neuropsychiatric manifestations were seen in 30%. Immunosuppressive agents were commonly used. Beta cell depletion was recently introduced for refractory cases. The outcome of the disease could not be determined from the available data. However, 145 out of 300 patients had disease damage [52.6% Saudi and 43.9% Egyptian] with mean of 1.3 for Saudi and 0.93 for Egyptian. Forty patients died during the disease course due to infections and severe organ disease. Systemic lupus erythematosus is common in Arab children, particularly familial SLE. The manifestations observed in Arabs are comparable with previous reports. However, there is a noticeable difference in the damage accrual and mortality rate between Arab and Canadian studies, which might reflect the disease severity
الملخص
Infantile systemic hyalinosis [ISH] is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and perianal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH
الموضوعات
Humans , Male , Infant , Hyalin/metabolism , Protein-Losing Enteropathies/etiology , Diarrhea/etiology , Diarrhea/diagnosis , Syndrome , Lymphangiectasis, Intestinal/diagnosisالملخص
Chronic recurrent multifocal osteomyelitis [CRMO] is a rare, systemic, aseptic, inflammatory disorder that involves different sites. Pathogenesis of chronic recurrent multifocal osteomyelitis is currently unknown. To our knowledge, there are no reports of CRMO from Saudi Arabia. We describe the clinical and laboratory features and treatment of a cohort of children with CRMO. Retrospective, patients referred to pediatric rheumatology clinic at a tertiary care center in Riyadh, Saudi Arabia. The diagnosis of CRMO was based on evidence of recurrent osteomyelitis with radiographic evidence of chronic osteomyelitis involving at least two sites in the absence of infectious cause in a child less than 14 years old. Ten patients [9 female, 1 male] with CRMO; 2 patients presented in infancy. The referral diagnosis was inaccurate in all patients. All of them presented with pain and 8 of them had associated swelling and were found to have multifocal lesions. Imaging studies showed findings consistent with chronic osteomyelitis. Histopathological and microbiological examination confirmed the diagnosis in 9 patients. Cyclic pamidronate infusions induced good improvement in 6 patients. This report indicates that CRMO may be overlooked in our community. Early diagnosis and treatment are required to avoid potential complications.
الملخص
Published data from Saudi Arabia regarding autoinflammatory diseases are scarce. In this study, we describe the clinical and laboratory features of autoinflammatory diseases in Saudi children. Restrospective, hospital-based study conducted from January 2010 until June 2010.Patients with autoinflammatory disease treated at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital and Research Center, Riyadh, over the past 10 years were included. Autoinflammatory diseases included the following: familial Mediterranean fever [FMF]; chronic recurrent multifocal osteomyelitis [CRMO]; early-onset sarcoidosis [EOS]; periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome [PFAPA]; chronic infantile neurologic cutaneous and articular syndrome [CINCA]; and Muckle-Wells syndrome [MWS]. Demographic characteristics, diagnosis, age at onset, disease duration, follow-up duration, clinical and laboratory variables, and outcome data were compiled. Gathered laboratory data were part of patients usual medical care. Thirty-four patients [females, 53%] with autoinflammatory diseases were included [mean age, 151 months]. Mean disease duration was 118 months; mean age at onset was 32 months; consanguinity was present in 40%. Patients were diagnosed as follows: FMF, 50%; CRMO, 23.5%; CINCA, 8.8%; EOS, 8.8%; MWS, 6%; and PFAPA, 2.9%. The referral diagnosis was inaccurate in all patients except for FMF patients. Gene study was informative in 9 of 14 FMF patients who had molecular analyses. None of our cohort had amyloidosis. All CRMO patients had a favorable response to treatment except 1 patient, who had refractory, progressive disease. All patients with EOS had multiorgan involvement, including uveitis. All CINCA patients had a favorable response to anakinra. Our report shows that autoinflammatory diseases other than FMF may be overlooked. Increased awareness among pediatricians about these conditions will help to provide better health care to patients in the form of early diagnosis and management
الموضوعات
Humans , Male , Female , Familial Mediterranean Fever/epidemiology , Child , Hereditary Autoinflammatory Diseases/diagnosisالملخص
Systemic lupus erythematosus [SLE] is a chronic inflammatory disorder of autoimmune origin, characterized by a wide variety of associations and an unpredictable course. The association of SLE and myeloproliferative and lymphoproliferative malignancies is widely reported in the adult literature [1-4]. Most of the data show that the malignancy is detected after the diagnosis and treatment of SLE [4]. However, the development of SLE has been described following treatment of different types of malignancies [5-8]. There is only scarce information available as to the association of both disease conditions in children. We report here a girl with SLE diagnosed 4 years after acute lymphocytic leukemia [ALL] was successfully treated
الموضوعات
Humans , Female , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Tomography, X-Ray Computed , Immunosuppression Therapyالملخص
Sarcoidosis is an idiopathic granulomatous disease, most commonly affecting young adults and presenting with bilateral hilar lymphadenopathy and pulmonary infiltrates [1]. In children it is relatively rare and its clinical spectrum varies according to the age of onset [1-2] It is more common during adolescence and usually presents with clinical features similar to the adult type. In children under the age of 4 years it is rare and has a different presentation. Clinical features are characterized by a triad of rash, uveitis, and arthritis.[3] Sarcoidosis has a worldwide distribution, but is more frequently reported from developed countries.[4,5. To our knowledge, there are no reports of childhood Sarcoidosis from Saudi Arabia. We describe the clinical and laboratory features, treatment and outcome of 8 children with sarcoidosis seen at our hospital
الموضوعات
Humans , Male , Female , Sarcoidosis/epidemiology , Sarcoidosis/therapy , Incidence , Diagnosis, Differential , Biopsy , Retrospective Studiesالملخص
To determine the feasibility, reliability and validity of the childhood health assessment questionnaire - modified for Arab children [CHAQ- MAC]. One hundred and eighteen modified questionnaires were completed by 75 juvenile rheumatoid arthritis [JRA] patients and their parents attending the Pediatric Rheumatology Clinic at the King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia over an 18 month period [January 1996 to May 1997]. The modified questionnaire was self-administered by 82% of the parents. The median time to complete the questionnaire was 10 minutes. The main difficulty in comprehension was discomfort dimension [visual analogue scale [VAS] and morning stiffness]. Test retest reliability was good [r=0.79]. Validity of the CHAQ-MAC was confirmed by the strong correlation between disability index and VAS score [r=0.58]. Functional activities that caused the most difficulties were cross sitting, assuming the prayer position, and using the Arabic style toilet. The modified CHAQ is a suitable assessment tool for Arab children suffering from JRA
الموضوعات
Humans , Male , Female , Health , Child , Arthritis, Juvenile , Arabsالملخص
To determine the prevalence and spectrum of ocular manifestations in children with systemic lupus erythematosus [SLE] and to examine the correlation of the ocular manifestations with disease activity, other organ involvement and the presence of circulating autoantibodies. In this cross-sectional study, we performed at King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia from June 2000 to November 2002, a comprehensive evaluation including detailed eye examination, measuring circulating autoantibodies [antinuclear, antiphospholipid antibodies] and calculation of Systemic Lupus Erythematosus Disease Activity Index [SLEDAI]. Fifty-two consecutive children [45 females] with SLE completed the evaluation. The mean age of the patients was 11.3 years and the mean SLEDAI was 9.5. Thirty patients [57.7%] had the disease for more than one year. Eighteen patients [34.6%] had ocular manifestations. Seven patients had abnormal Schirmer s test [2 bilateral, 5 unilateral]. Five patients had [4 unilateral, one bilateral] retinal vascular lesions. One patient had bilateral iridocyclitis. Three patients had unilateral optic neuropathy and 11 patients had visual field defects [4 bilateral, 7 unilateral]. Fisher exact test revealed positive correlation between optic neuropathy and central nervous system [CNS] involvement [p<0.002]. There was no correlation among other variables; probably due to the sample size. Ocular manifestations including sight threatening complications are not rare in children with SLE. Optic neuropathy has strong prediction for CNS lupus
الموضوعات
Humans , Male , Female , Lupus Erythematosus, Systemic/complications , Eye/pathology , Eye Diseases/etiology , Eye Diseases/pathology , Central Nervous System/pathology , Ophthalmoscopes , Visual Acuity , Visual Fields , Cross-Sectional Studies , Childالملخص
Esophageal atresia [EA], with or without tracheoesophageal fistula [TOF] is one of the most correctable fetal anomalies if diagnosed antenatally by serial ultrasound. We retrospectively evaluated antenatal diagnoses by ultrasound of EA with or without TOF at our institution in Saudi Arabia. Patients and We examined the records of mothers and infants with EA with or without TOF who were booked early and delivered at our institution during 1994 to 1998. Fetal diagnosis was based on level II serial ultrasound using a high-resolution ultrasound machine [n=78]. In the 5-year period, there were 58 491 live births, with 1345 congenital abnormalities [2.3%] and 78 cases of EA with or without TOF [0.13%] diagnosed antenatally. The survival rate was 68% for women with vaginal deliveries and 60% for women with caesarean deliveries, so caesarean delivery did not improve outcome. The Apgar score was 7 or greater at 5 minutes in 65 cases [83.5%], which emphasizes the problems such patients develop after delivery. Death was caused by anomalies other than EA that were incompatible with life, or in the post-operative period, by septicemia, renal failure or cot death. Conclusions: Our study suggests that early antenatal booking, serial ultrasound and early antenatal diagnosis improves outcome in EA with or without TOF
الموضوعات
Humans , Ultrasonography, Prenatal , Tracheoesophageal Fistula/diagnosis , Congenital Abnormalitiesالملخص
Juvenile Rheumatoid Arthritis is a chronic arthritis of unknown etiology. It remains a diagnosis of exclusion because no specific laboratory test or physical finding is diagnostic. There are 3main subtypes: Pauciarticular, Polyarticular and Systemic in onset. The management of Juvenile Rheumatoid Arthritis requires the expertise of a multidisciplinary team, including Pediatrician, Pediatric Rheumatologist, Ophthalmologist, Orthopedic Surgeon and Rehabilitation personnel. This review will focus on the diagnostic approach and pharmacological management of Juvenile Rheumatoid Arthritis in. The aim of this review is to standardize the treatment of Juvenile Rheumatoid Arthritis in Saudi Arabia
الموضوعات
Humans , Arthritis, Juvenile/drug therapy , Arthritis, Juvenile/therapyالملخص
The best person is he who has a long span of life and his action and conduct is good. Hadith [Tirmizi]