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1.
Cureus ; 16(3): e55805, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38586734

RESUMO

Introduction Teledentistry has emerged as a promising solution to enhance dental healthcare accessibility and quality. Understanding public awareness and attitudes toward teledentistry is crucial for its successful implementation, especially in regions like Saudi Arabia where digital health initiatives are rapidly expanding. This study aims to assess the level of awareness, attitudes, and perceptions toward teledentistry among the Saudi Arabian population, as well as examine the demographic factors influencing its acceptance. Methods A cross-sectional survey was conducted with 474 participants, employing a structured questionnaire to collect data on demographics, awareness, knowledge, perceptions, and attitudes toward teledentistry. Statistical analyses, including correlation and chi-square tests, were performed to analyze the data. Results The majority of respondents (64%) reported awareness of teledentistry, primarily through the Internet (44.5%) and healthcare providers (36.3%). The average self-assessed knowledge score was 3.04 out of 5, indicating moderate familiarity with teledentistry concepts. Attitudes toward teledentistry were generally positive, with 54% expressing belief in its effectiveness. However, a significant portion of the sample showed reluctance toward using teledentistry for routine dental check-ups, with only 45.1% showing willingness. High technological accessibility was reported, yet 55.9% of participants preferred traditional in-person consultations. Correlation analysis revealed a moderate positive relationship between knowledge and belief in effectiveness (r = 0.21), but a negligible correlation with willingness to use teledentistry (r = 0.016). A strong positive correlation was found between belief in effectiveness and willingness for routine check-ups (r = 0.673). Educational level significantly influenced teledentistry acceptance, with higher education correlating with greater receptiveness. Conclusion While there is a moderate level of awareness and a generally positive attitude toward teledentistry among the Saudi population, hesitance remains regarding its use for routine care. The findings highlight the need for educational initiatives to improve knowledge and perceptions of teledentistry, potentially enhancing its acceptance and integration into the healthcare system.

2.
Cureus ; 15(4): e37994, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37223165

RESUMO

Background Multicystic dysplastic kidney (MCDK) is a type of kidney dysplasia consisting of many irregular, various-sized cysts divided by dysplastic renal tissue, which negatively impacts kidney function. MCDK is one of the most common renal congenital disorders seen in antenatal ultrasounds. The typical prognosis of MCDK is complete or partial involution that starts antenatally and continues postnatally. The aim of the study was to shed light on the overall outcome of patients with MCDK. Methods We retrospectively collected data on MCDK patients from 2016 until 2022 at King Abdulaziz Medical City, Ministry of National Guard Health Affairs in Saudi Arabia, Riyadh. The data included the recording of epidemiological data, radiological and laboratory reports, and the presence of urological or non-urologically associated anomalies. Results A total of 57 patients with MCDK were reviewed. Seven of them were excluded due to the diagnosis of bilateral MCDK, which was incompatible with life. Of the remaining 50 patients, the right kidney was affected in 52% of them. Most patients were diagnosed antenatally (98%). The mean duration of follow-up for the study was 48 months. Vesicoureteral reflux (VUR) was detected in 22% of the total sample. Overall, 90% of the patients underwent kidney involution. A small percentage had genitourinary anomalies (20%), while a larger percentage (48%) had extrarenal abnormalities. Conclusion Multicystic dysplastic kidney disease is relatively common in children. The prognosis is affected by the presence of genitourinary and non-genitourinary anomalies. Patients have an overall good prognosis with conservative management. Antenatal screening, diagnosis, and long-term nephrological follow-up are essential for the optimal management of patients.

3.
Saudi Pharm J ; 31(3): 329-334, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37026053

RESUMO

Objective: The objectives of this study were to explore the wastage of narcotics and controlled medications and, their financial impact in a tertiary care setting over a one-year period. Methodology: The study period was of one year, i.e., October 2020 - September 2021. The venue of study was a tertiary care hospital. The narcotic medications included Fentanyl, Tramadol, Morphine, and Meperidine. The controlled medications included Midazolam, Phenobarbital, Diazepam, Ketamine and Lorazepam. The annual consumption and wastage of the narcotic and controlled medications were documented using data report generated by narcotics and controlled medication in-charge pharmacist through the hospital's online system. Data was reported using average, minimum and maximum values. Quantities of wastage is expressed in terms of ampoules. Costs per ampoule were calculated and expressed in both Saudi Riyal (SAR) and United States Dollar (USD). The study was approved by an ethics committee. Results: The annual wastage of narcotics was 3.19 % while the same for controlled medications was 21.3 %. An annual wastage of 3.81 % was reported for narcotics and controlled medications combined. The total wastage cost of narcotics and controlled medications was 15,443.1 SAR that was equivalent to USD 4085.5. Fentanyl 500mcg formulations had the highest consumption, i.e., 28,580 ampoules followed by Morphine 10 mg formulations, i.e., 27,122 ampoules. The highest ampoule wastage was observed for Morphine 10 mg formulations, i.e., 1956 ampoules. The highest % wastage was observed for Midazolam formulations, i.e., 29.3 %. Conclusion: The overall wastage was less than 5% of the total consumption, however, midazolam was observed to have the highest wastage. Shifting to prefilled syringes supplied by pharmacies, making protocols, and safely pooling costly drugs could result in significant savings.

4.
Cureus ; 15(1): e33719, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36793817

RESUMO

Child abuse is a challenging problem that any healthcare worker might encounter. It can lead to multiple physical and psychological effects on the child. We report a case of an eight-year-old boy who presented to the emergency department with history of decreased level of consciousness and change in urine color. On examination, he was found to be jaundiced, pale, and hypertensive (160/90 mmHg) with multiple skin abrasions all over the body, suggestive of physical abuse. Laboratory investigations were consistent with acute kidney injury and significant muscle damage. The patient was admitted to intensive care unit (ICU) as a case of acute renal failure secondary to rhabdomyolysis, and subsequently required temporary hemodialysis during his stay in the ICU. The child protective team was involved in the case throughout his hospital admission. Rhabdomyolysis with acute kidney injury secondary to child abuse is an unusual presentation in children, and reporting such cases may lead to early diagnosis and initiation of prompt interventions.

5.
Pediatr Nephrol ; 38(6): 1801-1810, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36409364

RESUMO

BACKGROUND: Primary hyperoxalurias (PHs) constitute rare disorders resulting in abnormal glyoxalate metabolism. PH-associated phenotypes range from progressive nephrocalcinosis and/or recurrent urolithiasis to early kidney failure. METHODS: A retrospective study was conducted for patients with confirmed PH diagnoses from three tertiary centers in Saudi Arabia. Detailed clinical molecular diagnosis was performed for 25 affected individuals. Whole exome sequencing (WES)-based molecular diagnosis was performed for all affected individuals. RESULTS: The male:female ratio was 52% male (n = 13) and 48% female (n = 12), and consanguinity was present in 88%. Nephrolithiasis and/or nephrocalcinosis were present in all patients. Kidney stones were present in 72%, nephrocalcinosis in 60%, hematuria in 32%, proteinuria in 16%, abdominal pain in 36%, developmental delay in 8%, and chronic kidney disease stage 5 (CKD stage 5) was observed in 28% of the patients. The most common PH disorder was type I caused by variants in the AGXT gene, accounting for 56%. The GRHPR gene variants were identified in 4 patients, 16% of the total cases. Seven patients did not reveal any associated variants. Missense variants were the most commonly observed variants (48%), followed by frame-shift duplication variants (28%). CONCLUSIONS: Characterization of the genetic and clinical aspects of PH in this unique population provides direction for improved patient management and further research. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Hiperoxalúria Primária , Nefrocalcinose , Nefrolitíase , Masculino , Humanos , Feminino , Nefrocalcinose/epidemiologia , Nefrocalcinose/genética , Nefrocalcinose/diagnóstico , Hiperoxalúria Primária/complicações , Hiperoxalúria Primária/diagnóstico , Hiperoxalúria Primária/epidemiologia , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Nefrolitíase/genética
6.
Risk Manag Healthc Policy ; 14: 3873-3882, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34557046

RESUMO

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 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.

7.
Cureus ; 13(4): e14478, 2021 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-33996336

RESUMO

Context Although the Modified Harris Hip Score (MHHS) is used worldwide, it has not been translated into Arabic or validated for use among Arabic populations. Aim This study aimed to translate the MHHS into Arabic and to culturally adapt and validate the Arabic version. Design A cross-sectional study of the MHHS was performed. Methods The MHHS was translated into Arabic using forward-backward translation. A total of 183 adults who could speak and read Arabic completed the questionnaire. Cronbach's alpha was used to assess internal consistency with respect to the total and subscale scores. Pearson's correlation coefficient was used to evaluate associations between the total scores, and the subscales and intersubscales. Test-retest reliability was assessed using the intraclass correlation coefficient (ICC). The Kaiser-Meyer-Olkin value was determined before principal component analysis to evaluate the validity of the construct and the reliability of the data, and correlations among the score items were estimated. Results All the participants understood the questions. The ICCs for the total score, function subscale, and pain subscale were 0.936, 0.936 and 0.893, respectively. Cronbach's alpha was acceptable for the total score (0.792) and good for the function subscale (0.895). The total score and the function (r = 0.976; p < 0.001) and pain (r = 0.971; p < 0.001) subscales correlated significantly. Regarding score validity, all the MHHS items correlated with the total score (p < 0.001). Conclusions The reliability and validity of the Arabic version of the MHHS was demonstrated. The MHHS can be used to assess hip pathology among adults in Saudi Arabia.

8.
Cureus ; 12(11): e11552, 2020 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-33224682

RESUMO

BACKGROUND: Scoliosis is a spinal deformity consisting of lateral curvature and rotation of the vertebrae. The goal of corrective scoliosis surgery is to restore alignment of the spine and maintain motion. However, there is no global agreement among spine surgeons on the best method of surgical intervention, and little is known about the variations in practice among spine surgeons in Saudi Arabia. OBJECTIVES: The aim of this study is to examine the current surgical practices relating to adolescent idiopathic scoliosis and to establish the degree of variation and consensus among spine surgeons in Saudi Arabia. METHODS: This was a cross-sectional study conducted among spine surgeons in Saudi Arabia, using a self-administered questionnaire. The questionnaire addressed four areas: surgeons' demographics, pre-operative assessment, operative assessment, and infection control practices. There were a total of 27 questions. Data was analyzed using statistical package for social sciences (SPSS) software (SPSS Inc., Chicago, IL, USA). RESULTS: A total of 150 surgeons were included in this study. Of these, 73 responded to the questionnaire (response rate: 48.6%), 46 (63.01%) of whom were fellows. All respondents were males, and 37 (51.39%) were aged between 30 and 40 years. Fifty five (75.34%) were orthopedic surgeons. The most commonly used pre-operative health assessment test was an echocardiogram. Sixty six (90%) surgeons requested scoliosis anteroposterior (AP) view and lateral radiograph for curvature between 40 degrees and 90 degrees, and 65 (89%) requested it for curvature greater than 90 degrees. For the posterior construct, 29 (45.31%) did not use cross-links for fewer than 10 levels, and 23 (35.94%) did not use cross-links for more than 10 levels. In addition to a local bone graft, the most commonly used transplant method was allograft 37 (50.68%). Fifty five (85.94%) respondents favored an all-screw pedicle construct over a hybrid construct. CONCLUSION: A large variation in surgical practices was observed. This was especially apparent in practices including the use of cross-links, intra-operative cell salvage, and the intra-operative use of traction. Some degree of variation was observed in pre-operative imaging assessment practices. Surgical guidelines should be developed to build a consensus among surgeons. A unified surgical training curriculum may help in achieving this goal.

9.
Ann Med Surg (Lond) ; 55: 227-233, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32518647

RESUMO

BACKGROUND: Uveal melanoma is the commonest intraocular malignant tumor in adults and the choroid is the commonest involved location. It is more prevalent in Caucasians; however, the demographics are widely variable based on ethnicity. Histopathological features have been correlated to the cytogenetic profile, which we intend to report through the study of enucleated eyes with choroidal melanoma (CM). MATERIALS AND METHODS: A retrospective review of 28 enucleated globes with CM in 2 tertiary eye centers (January 2000-December 2017). The tumors were histopathologically classified based on the 8th edition of the American Joint Committee on Cancer (AJCC). The histopathological risk factors and the AJCC classifications were correlated with Fluorescence in situ hybridization (FISH) for chromosomes 3 and 8 available results in 18/28 eyes. RESULTS: We have included 28 patients with a mean age of 56 years, 13 males (46.4%) and 15 females (53.6%). None had lymph node involvement or metastatic disease. The tumor size was categorized as 3 and 4 in 68% of eyes. Half tumors were of spindle cell type and were associated with absent cytogenetic abnormality in chromosomes 3 and 8 (P=0.005). Closed vascular loops presence was significantly associated with abnormal chromosomes 3 and 8 (P=0.027). CONCLUSION: Patients in our area presented late with larger tumor size. The spindle cell CM was the commonest and correlated with negative FISH results, while the presence of closed vascular loops was a risk factor for abnormal FISH results hence expected worse prognosis. AJCC classification did not correlate well with our FISH results.

11.
Ann Med Surg (Lond) ; 35: 158-162, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30310678

RESUMO

BACKGROUND: Fibro-osseous pseudotumor (FOPD) of the digit is a rare benign lesion of subcutaneous tissue characterized by fibroblastic proliferation and osteoid formation. Herein, we present a case of massive FOPD lesion in the base of ring finger with extensive involvement of the neurovascular bundles with challenging surgical approach. CASE DESCRIPTION: A 27-year old female patient, presented with 7-months history of a progressively enlarging mass on her left hand. Upon assessment, the mass was located over the proximal phalanx of the left ring finger with extensive involvement of the 4th web space. Her neurovascular examination was normal. Radiological investigations showed partial involvement of the radial sided bundle together with complete involvement of the ulnar sided neurovascular bundle. The patient was bothered by the mass being painful with overlying skin ulceration. She was taken afterwards to the operating room where the mass was dissected freely from those bundles while preserving the radial and ulnar structures. The resected margins were however, positive for residual lesions due to the extensive nature of the mass. The patient was informed about the need for close follow-ups for both clinical and radiological signs of lesion recurrence pending early surgical intervention. CONCLUSION: FOPD although benign, a soft tissue osteosarcoma is one of the differential diagnosis. Meticulous attention to the clinical, pathological and histological features of FOPD is required. Early diagnosis and treatment of FOPD is very crucial in optimizing the overall outcome. Pre-operative planning with various radiological modalities was of great help anticipating the surgical course.

12.
J Family Community Med ; 25(2): 95-101, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29922109

RESUMO

OBJECTIVES: The objectives of this study are to estimate the prevalence of self-medication with antibiotics in King Khalid University Hospital population and evaluate the factors affecting this behavior. MATERIALS AND METHODS: This was a cross-sectional study conducted at King Khalid university hospital from April to May 2016. A pretested self-administered questionnaire was handed to a random selection of 519 patients attending the primary care clinics . Data were entered into Microsoft Office Excel 2007 and sent to SPSS version 20 for analysis. Descriptive statistics and logistic regression were applied. RESULTS: The prevalence rate of self-medication with antibiotics was 40.8%. Older patients and males were most likely to use antibiotics without a prescription. The most common illnesses that made patients use antibiotics was upper respiratory tract infections (73.2%). Commercial pharmacies were the major source 82.8%. Only 27.8% patients consulted their physicians for the correct dosage . The previous experience with a similar illness (67.2%) and difficulty in obtaining medical help (29.3%) were the most common reasons for self-administration of antibiotics. Improved health condition (57.8%) was the main reason for stopping the use of antibiotics while lack of improvement in health status led to a shift to another antibiotic in 62.5% of the respondents. CONCLUSION: The prevalence of using antibiotics without a prescription is relatively high. Proper education of the public on the dangers of the misuse of antibiotics through the media might help to reduce this practice.

13.
Ther Clin Risk Manag ; 14: 811-816, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29750039

RESUMO

Extracorporeal membrane oxygenation (ECMO) is considered a recognized lifesaving support for patients with cardiorespiratory failure. Acute kidney injury (AKI) and fluid overload are significant morbidity factors resulting in serious complications. The inline hemofilter system (IHS) and the continuous renal replacement therapy (CRRT) machine are different methods of renal replacement therapy for patients with ECMO. IHS is the alternate, safe dialysis modality of choice because it is user-friendly, inexpensive, and efficiently removes fluid overload and renal diffusive clearance. We report on a 20-day-old male neonate with multiple congenital cardiac defects who needed venoarterial ECMO and had AKI necessitating renal replacement therapy using IHS. The patient had stable electrolyte parameters, good ultrafiltration, and efficient diffusive clearance. He was decannulated from ECMO therapy after 9 days without any related complications. Therefore, neonatal IHS is a safe and efficient alternative approach to AKI.

14.
Retina ; 38(9): 1725-1730, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29160785

RESUMO

PURPOSE: We report a novel finding on spectral domain optical coherence tomography in patients with choroideremia, which we describe as scleral pits (SCPs). METHODS: Cross-sectional observational case series of 36 patients with choroideremia, who underwent ophthalmic examination and multimodal imaging, including optical coherence tomography of the macula. Optical coherence tomography images were reviewed for SCP, which were defined as discrete tracts of hyporeflectivity that traverse the sclera with or without the involvement of Bruch membrane, retinal pigment epithelium, and retina. Unpaired two-tailed t-test with Welch correction was used for statistical analysis. RESULTS: Of the 36 patients, 19 had SCP in at least one eye. Scleral pits were confined to areas of advanced chorioretinal degeneration and never involved the foveola. Type 1 SCP affected only the sclera, whereas Type 2 SCP also involved the Bruch membrane and the retinal pigment epithelium. Type 3 SCP additionally had a full-thickness retinal defect. Patients with SCP were significantly older (51 ± 2 vs. 33 ± 4 years; P < 0.05) and had lower best-corrected visual acuity (20/160 vs. 20/30 or 0.9 ± 0.2 vs. 0.2 ± 0.07 logarithm of the minimum angle of resolution; P < 0.05) than patients without SCP. Patients with SCP had a greater myopic refractive error compared with patients without SCP (-2.6 ± 0.5 vs. -0.3 ± 0.5D; P < 0.05), but there was no significant correlation between the number of SCPs with refraction. Short posterior ciliary arteries were observed to enter the eye through one Type 3 SCP. CONCLUSION: Scleral pits are, to the best of our knowledge, a novel optical coherence tomography finding in advanced choroideremia that likely represents the abnormal juxtaposition of penetrating short posterior ciliary arteries with the retina.


Assuntos
Anormalidades Múltiplas/terapia , Corioide/irrigação sanguínea , Coroideremia/terapia , Fenda Labial/terapia , Fissura Palatina/terapia , Cistos/terapia , Terapia Genética/métodos , Lábio/anormalidades , Epitélio Pigmentado da Retina/patologia , Esclera/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Adulto , Idoso , Lâmina Basilar da Corioide/patologia , Coroideremia/diagnóstico , Coroideremia/fisiopatologia , Fenda Labial/diagnóstico , Fenda Labial/fisiopatologia , Fissura Palatina/diagnóstico , Fissura Palatina/fisiopatologia , Estudos Transversais , Cistos/diagnóstico , Cistos/fisiopatologia , Feminino , Angiofluoresceinografia/métodos , Seguimentos , Humanos , Lábio/fisiopatologia , Masculino , Pessoa de Meia-Idade , Tomografia de Coerência Óptica/métodos , Acuidade Visual
15.
Invest Ophthalmol Vis Sci ; 58(10): 3840-3850, 2017 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-28763557

RESUMO

Purpose: To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene. Methods: A retrospective multicenter study of patients with retinopathy and identified C2orf71 mutations was performed. Ocular function (visual acuity, visual fields, electroretinogram [ERG] responses); retinal morphology (fundus, optical coherence tomography); and underlying mutations were analyzed. Results: Thirteen patients from 11 families, who were aged 7 to 63 years (mean: 32.1 years) at their first examination with presumed compound heterozygous (6/13 patients) or homozygous (7/13 patients) C2orf71 mutations were identified. Eight of the mutations were novel. Truncation mutations were responsible in all cases. Nyctalopia was observed in less than 50% of patients. Visual acuity ranged from 20/20 to light perception. Severe visual loss was associated with atrophic maculopathy. Full-field ERG responses showed severe progressive cone-rod or rod-cone dysfunction. Typical fundus changes were progressive symmetrical retinopathy with an early mild maculopathy and patchy circular midperipheral RPE atrophy. Normal retinal lamination was preserved despite early disruption of the ellipsoid zone and RPE irregularities. Outer retinal tubulations were associated with better-preserved visual acuity. Conclusions: On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations. The phenotype analysis over a wide age range showed a variable and progressive retinal degeneration with early onset maculopathy and a better visual potential before the age of 30 years.


Assuntos
Proteínas do Olho/genética , Mutação , Retinose Pigmentar/genética , Adolescente , Adulto , Criança , Eletrorretinografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Retinose Pigmentar/fisiopatologia , Estudos Retrospectivos , Acuidade Visual/fisiologia , Campos Visuais/fisiologia , Adulto Jovem
16.
BMC Nephrol ; 18(1): 50, 2017 02 06.
Artigo em Inglês | MEDLINE | ID: mdl-28166740

RESUMO

BACKGROUND: Cystinuria is an inherited metabolic disease that is caused by defects in two genes, SLC3A1 and SLC7A9, which result in a renal reabsorptive defect of cystine and other dibasic amino acids, including ornithine, arginine, and lysine. Patients usually present with recurrent renal calculi and may develop renal impairment. Medical management includes high fluid intake and chelating agents. To the best of our knowledge, this is the first study describing cystinuria in Saudi Arabia. METHODS: A retrospective chart review for cystinuria patients from the genetic and nephrology divisions between 2010 to 2015. All patients were investigated, diagnosed and treated at King Abdulaziz Medical City in Saudi Arabia. RESULTS: Eight patients were identified from five unrelated families. The age of onset ranged from birth to 14 years. The female to male ratio was 1.7:1. Two new variants in the SLC3A1 and SLC9A7 genes were discovered. All of the detected mutations were missense variants in three different exons, such as c.1711 T > A (p.Cys571Ser) (exon 10), c.1166C > T p.Thr389Met (exon 11) and c.1400 T > A p.Met467Lys (exon 8). Additionally, 37.5% of our patients developed arterial hypertension and 25% had urinary tract infection, but none had renal impairment. No significant clinical differences were detected in this study between type A (SLC3A1 variants) and type B cystinuria (SLC7A9 variant). Two cases were diagnosed based on clinical information, biochemical testing and a positive family history as all of the molecular testing for cystinuria was negative. CONCLUSION: Cystinuria has wide genetic heterogeneity with a poor genotype/phenotype correlation. Negative molecular investigations should not rule out the disease if clinical and biochemical investigations support the diagnosis. A larger data registry is essential to better describe the cystinuria genotype/phenotype in Saudi Arabia.


Assuntos
Sistemas de Transporte de Aminoácidos Básicos/genética , Sistemas de Transporte de Aminoácidos Neutros/genética , Cistinúria/genética , Adolescente , Adulto , Idade de Início , Criança , Cistinúria/complicações , Feminino , Humanos , Hipertensão/etiologia , Masculino , Mutação de Sentido Incorreto , Estudos Retrospectivos , Arábia Saudita , Infecções Urinárias/etiologia , Adulto Jovem
18.
Retina ; 36(12): 2339-2347, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27336230

RESUMO

PURPOSE: To demonstrate the clinical utility of optical coherence tomography (OCT) angiography (OCT-A) in inherited retinal dystrophies complicated by choroidal neovascularization (CNV). METHODS: Optical coherence tomography angiography and structural OCT were performed using a 70-kHz spectral domain OCT system using the split-spectrum amplitude-decorrelation angiography algorithm. Semiautomated image processing software was used to segment and measure the CNV. RESULTS: Four participants were enrolled to study the following inherited retinal dystrophies complicated by CNV: choroideremia, EFEMP1-related retinopathy, Best vitelliform dystrophy, and adult-onset vitelliform dystrophy. Interpretation of fluorescein angiography was difficult because of abnormal retinal architecture but suggested the presence of CNV. Structural OCT revealed subretinal or subretinal pigment epithelium fibrovascular tissue, within which flow signal was observed on OCT-A. The CNV morphology varied from dense capillary networks in active lesions to asymptomatic large caliber loops. Baseline CNV vessel areas ranged from 0.07 mm to 0.98 mm. After treatment with intravitreal bevacizumab, the CNV in choroideremia decreased in the vessel area then rebounded, whereas the one in EFEMP1-related retinopathy remained largely unchanged. CONCLUSION: Optical coherence tomography angiography enables morphologic characterization and quantification of CNV in patients with retinal dystrophies despite distorted retinal architecture, can assess response to treatment, and may facilitate differentiation between active and regressed lesions.


Assuntos
Neovascularização de Coroide/diagnóstico por imagem , Angiofluoresceinografia , Distrofias Retinianas/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Adolescente , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distrofias Retinianas/complicações , Acuidade Visual
20.
Surg Res Pract ; 2015: 628705, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26347903

RESUMO

Background. Superior mesenteric artery (SMA) syndrome is a rare condition of duodenal obstruction, caused by the overlying SMA. Aim. To report on our experience with the management of SMA syndrome, drawing the attention to its existence. Material and Methods. We reviewed our records to identify cases diagnosed with SMA syndrome, in the period from October 1995 to January 2012. Results. Seven patients were identified, one male and six females. Their mean age was 17.1 years. Vomiting and abdominal pain were the presenting complaints in all patients and history of weight loss was present in six of them. In no patient was the diagnosis suspected initially on clinical grounds. Only after radiological investigations was the diagnosis declared. Radiology took the form of gastrografin/barium meal only in four patients and both gastrografin/barium meal and computerized tomography scan in the remaining three. Four patients responded to medical treatment and surgery was performed in the remaining three, with open duodenojejunostomy in two patients and laparoscopic dissection of the ligament of Treitz in the third. Long lasting improvement was sustained in all patients except one in the surgery group who, despite initial improvement, still has infrequent attacks of abdominal pain. Conclusion. Although the clinical manifestations of SMA syndrome are shared with many other disease entities, it has unique radiological as well as endoscopic features, which enables a confident diagnosis to be made. Once diagnosed, conservative treatment with nutritional support and positioning should be tried first. In case of unresponsiveness, surgery may give a lasting cure.

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