Rare tumors in pediatric age group: Single center experience from Saudi Arabia.
Ontology highlight
ABSTRACT:
SUBMITTER: Elborai Y
PROVIDER: S-EPMC7907711 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:ObjectivesTo describe the clinical and molecular characteristics of patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Methods: A retrospective observational cross-sectional analysis was conducted on all patients with VLCAD deficiency at (Genetic/Metabolic Section), Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia from 2000 to 2019. Demographic, clinical, and laboratory data were abstracted from the electronic hospital records using a case report form. Results: A total of 14 children were analyzed. Six presented with hypoglycemia, 4 with cardiomyopathy, and 10 had rhabdomyolysis. Five patients had early onset severe phenotype, while 9 had mild form. The molecular study revealed homozygous mutations in ACADVL in all 14 patients. Three variants were not reported before. All patients were treated with medium-chain triglyceride and carnitine. Ten patients are alive and have normal development, while 4 died. Conclusion: Most of the patients in this cohort presented in the neonatal period either by newborn screening or clinically with hypoglycemia, cardiomyopathy, and rhabdomyolysis. The new molecular variants detected in this study broaden the genetic spectrum of VLCAD deficiency in Saudi Arabia.
| S-EPMC7502945 | biostudies-literature
Project description:Background: Laparoscopy is rapidly replacing laparotomy in the field of gynecologic surgery. Generally, there are limited data concerning the utility of single-incision laparoscopic surgery (SILS) in gynecologic surgery. Specifically, in Saudi Arabia, a third-world country, data are further limited; only one related study has been conducted so far. The purpose of this study is to retrospectively report our single-institutional experience of SILS in terms of feasibility, safety and perioperative outcomes in the management of various gynecologic conditions. Methods: The study took place at the Women's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia. From January 2012 to May 2016, all gynecologic patients who underwent SILS procedures were analyzed for pre-, intra- and post-operative details. SILS was performed using a single multi-port trocar and standard laparoscopic instruments. Results: A total of 54 patients underwent 66 SILS procedures. The median age and body mass index (BMI) were 36 years and 28.2 kg/m 2, respectively. Fourteen patients (26%) had ? 1 previous abdominal and/or pelvic surgeries. Twenty-four patients (44.4%) were nulliparous. The three most commonly performed SILS procedures were unilateral salpingo-oophorectomy (45.5%) and unilateral ovarian cystectomy (27.3%) and adhesiolysis (6.1%). The median operative time, estimated blood loss and hospital stay were 74 min, 50 ml and 1 day, respectively. Three patients required conversion to laparotomy, as follows: unidentified non-stopping bleeding source (n=1) and endometriosis stage IV resulting in difficult dissection (n=2). One patient developed post-operative incisional hernia that was treated surgically. The median patients' post-operative pain (according to Wong-Baker FACES Foundation pain rating scale) within 4 hours was 2. At 4-week post-operatively, the median wound scar length (measured at outpatient clinic) was 2 cm. Conclusions: SILS is feasible, safe and associated with acceptable clinical and surgical outcomes.
| S-EPMC5609086 | biostudies-literature
Project description:ObjectivesUnderstanding how local "psychiatry clinic" characteristics shape research findings is essential for applying research into evolution, outcomes, and costs of mental health. However, a paucity of "psychiatry clinics" details has implications for the interpretation and utilization of this research.MethodsWe reviewed data of 746 patients with new-onset schizophrenia on antipsychotic monotherapy seen over four years in an "adult psychiatry clinic" at Jazan Health, Saudi Arabia. Protocol-driven interviews and investigations were recorded prospectively and extracted from the medical records for the study. Summary statistics and logistic regression analyses were applied to assess patients' characteristics and outcomes.ResultsThe median patient age was 32 (IQR 27-39) years. Of patients, 589 (79.0%) were male, and 679 (91.0%) had a low-level education. The median follow-up duration was 51.4 (IQR 27.4-96.3) weeks. The most used initial antipsychotic drugs were olanzapine (48.8%), haloperidol (13.9%), and aripiprazole (11.3%). The numbers of patients who retained the initial drug at 24 and 52 weeks were 539 (72.3%) and 325 (43.6%), respectively. The initial drug was changed in 246 (33.0%) patients. The median time to initial drug change was 43.9 (IQR 14.8-85.0) weeks. The logistic regression demonstrated that male sex (P < 0.004), young adult age group (P < 0.027), predominant positive symptoms (P < 0.021), treatment with haloperidol (P < 0.024), and khat use (P < 0.006) were significant factors for drug change.ConclusionsThis clinical records study demonstrated substantial individual variations in characteristics and in responding to initial antipsychotic medication. Insight into these findings will facilitate the planning for comprehensive research programs.
| S-EPMC9216363 | biostudies-literature
Project description:Transcatheter aortic valve implantation (TAVI) has been recognized as a valid alternative to surgery for severe aortic valve stenosis (AS) in high-risk surgical patients.Determine first-year clinical outcomes for TAVI at Madinah Cardiac Center (MMC) in Saudi Arabia.Retrospective, analytical cross-sectional.Tertiary cardiac care center.All patients who underwent TAVI for severe AS between February 2013 and December 2016 were included. Clinical, imaging, and laboratory information at baseline and at one year follow-up were analyzed.Clinical and echocardiography out.comes at discharge, at 1-month, and at end of follow-up; one-year mortality, complications and clinical response to TAVI procedure.N=80, mean (SD) age 79.5 (10.6) years, with severe AS and high-surgical risk.Fifty-five (69.2%) patients received Core valves, and 25 (30.8%) received Edward valves. Peri-procedure mortality was 3.8% and 1-year post-operative mortality was 13.8%. Ten patients (12.5%) had life-threatening or major bleeding. Nineteen (23.8%) patients had vascular complications, which were mostly minor. Fourteen patients (17.5%) developed acute kidney injury and 86% of these patients recovered. Five patients (6.25%) had pericardial effusion. Two patients (2.5%) developed endocarditis and another 2 patients (2.5%) had cerebrovascular accidents. Five patients (6.25%) received pacemakers. Mean aortic valve gradient significantly reduced from a mean (SD) 47.6 (19) mm Hg to 10.7 (6.0) mm Hg (P less than .001). New York Heart Association functional class was significantly reduced (P less than .001).The TAVI experience at MCC is encouraging and comparable to international outcomes in terms of success, morbidity, and mortality rate.Retrospective, relatively small sample size. Rate of minor bleeding was overestimated.None.
| S-EPMC6074303 | biostudies-other
Project description:A tenth of all pediatric liver transplantations (LTs) are performed for unresectable liver malignancies, especially the more common hepatoblastoma (HBL). Less understood are outcomes after LT for the rare hepatocellular carcinoma, nonhepatoblastoma embryonal tumors (EMBs), and slow growing metastatic neuroendocrine tumors of childhood. Pediatric LT is increasingly performed for rare unresectable liver malignancies other than HBL. We performed a retrospective review of outcomes after LT for malignancy in the multicenter US Scientific Registry of Transplant Recipients (SRTR; n?=?677; 1987-2015). We then reviewed the Children's Hospital of Pittsburgh (CHP; n?=?74; 1981-2014) experience focusing on LT for unresectable hepatocellular cancer (HCC), EMBs, and metastatic liver tumors (METS). HBL was included to provide reference statistics. In the SRTR database, LT for HCC and HBL increased over time (P?<?0.001). Compared with other malignancies, the 149 HCC cases received fewer segmental grafts (P?<?0.001) and also experienced 10-year patient survival similar to 15,710 adult HCC LT recipients (51.6% versus 49.6%; P?=?0.848, not significant [NS], log-rank test). For 22 of 149 cases with incidental HCC, 10-year patient survival was higher than 127 primary HCC cases (85% [95% confidence interval (CI), 70.6%-100%] versus 48.3% [95% CI, 38%-61%]; P?=?0.168, NS) and similar to 3392 biliary atresia cases (89.9%; 95% CI, 88.7%-91%). Actuarial 10-year patient survival for 17 EMBs, 10 METS, and 6 leiomyosarcoma patients exceeded 60%. These survival outcomes were similar to those seen for HBL. At CHP, posttransplant recurrence-free and overall survival among 25 HCC, 17 (68%) of whom had preexisting liver disease, was 16/25 or 64%, and 9/25 or 36%, respectively. All 10 patients with incidental HCC and tumor-node-metastasis stage I and II HCC survived recurrence-free. Only vascular invasion predicted poor survival in multivariate analysis (P?<?0.0001). A total of 4 of 5 EMB patients (80%) and all patients with METS (neuroendocrine-2, pseudopapillary pancreatic-1) also survived recurrence-free. Among children, LT can be curative for unresectable HCC confined to the liver and without vascular invasion, incidental HCC, embryonal tumors, and metastatic neuroendocrine tumors. Liver Transplantation 23 1577-1588 2017 AASLD.
| S-EPMC5725660 | biostudies-literature
Project description:Hepatitis D virus (HDV) is a defective RNA virus that is dependent on hepatitis B surface antigen (HBsAg) for transmission and replication. HDV significance arises from the possibility of poor prognosis of hepatitis B virus (HBV) infection. In Saudi Arabia, HDV prevalence varied from 8 to 32% before the HBV vaccination program and ranged from 0 to 14.7% after the vaccination program was started. The last study, performed in 2004, showed a prevalence of 8.6% in hospital-based HBV cases and 3.3% in healthy donors. The aim of this study was to investigate the prevalence and molecular characterization of HDV in chronic hepatitis B (CHB) patients at the King Abdulaziz University Hospital in Jeddah, Saudi Arabia by molecular and serological techniques. To the best of our knowledge, this is the first study to detect HDV at the molecular level in Saudi Arabia.The study included samples from 182 CHB patients from Jeddah; 13 samples with HBsAg negative were excluded. Samples were tested for HDV-Ab, viral RNA by reverse transcriptase-polymerase chain reaction (RT-PCR) in the HDV L-Ag region and sequence analysis.The mean age of the participants was 44.36 years; 75.1% of the participants were Saudi nationals, 58% were males. Nine samples were positive for HDV-Ab and four were borderline; all were subjected to RT-PCR amplification. Three of the positive HDV-Ab cases and 1 borderline case were positive by RT-PCR. All the positive cases had HBV genotype D, and the positive RT-PCR cases were positive for HBV DNA. One of the HDV viremic samples was of genotype 1 by sequencing. The prevalence of HDV in the study was 7.7%, which was lower in Saudis (6.3%) than in non-Saudis (11.9%).HDV coinfection does not seem to have an effect on the clinical status of the recruited CHB cases in this study. More studies are needed to investigate the genetic diversity in other areas such as the southern parts of the Kingdom.
| S-EPMC5470377 | biostudies-literature
Project description:The recurrence rate, related to the unpredictable behavior of gastrointestinal stromal tumors (GISTs), continues to be a major topic of investigation, since no actual risk evaluation scales have proven to be exceedingly effective in predicting prognosis. We therefore focus in this study on investigating the predictive variables of disease recurrence.Between September 2004 and January 2011, 34 patients, 18 males and 16 females with a median age of 62 (range, 27-87) years, underwent operations for primary, localized and advanced GISTs. Immunohistochemical profile, KIT and the platelet-derived growth factor receptor-alpha (PDGFR-?) gene mutations, tumor size, tumor site, mitotic index, synchronous tumors, adjuvant therapy, symptoms and gender were considered and analyzed as predictive variables. The receiver operating characteristic (ROC) analysis was used to determine the optimal cut-off value for tumor dimension to predict recurrence.The median follow-up (FU) was 20 months (range, 6-86 months). A first-line adjuvant therapy was performed in nine patients. Disease relapse occurred in five cases. The tumor size and the mitotic index were the strongest predictive factors (P<0.001). The optimal maximum value for the tumor size was 7 cm [area under the curve (AUC) =0.955].In light of the most recent evidence, a tumor size of 7 cm should be considered the threshold value for malignancy, and smaller GISTs with low mitotic counts as tumors with a low-grade risk.
| S-EPMC5750189 | biostudies-other
Project description:ObjectivePrimary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI is usually caused by monogenic diseases. Although congenital adrenal hyperplasia (CAH) is the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified.MethodsPatients aged 0-18 years and diagnosed with PAI between 1998 and 2019 in a tertiary care hospital were retrospectively evaluated. After the etiologic distribution was determined, non-CAH PAI patients were evaluated in detail.ResultsSeventy-three PAI patients were identified. The most common etiology was CAH (69.9%, n=51). Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown etiologies (n=3). The median age at the time of AI diagnosis for non-CAH etiologies was 3.52 (0.03-15.17) years. The most frequent symptoms/clinical findings at onset were hyperpigmentation of skin (81.8%), symptoms of hypoglycemia (40.9%), and weakness/fatigue (31.8%). Hypoglycemia (50.0%), hyponatremia (36.4%) and hyperkalemia (22.7%) were prominent biochemical findings. Diagnosis of specific etiologies were proven genetically in 13 of 22 patients. A novel p.Q301* hemizygous frameshift mutation of the DAX1 gene was identified in one patient.ConclusionEtiology was determined in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/ without molecular analysis of candidate genes. ALD was the most common etiology. Currently, advanced molecular analysis can be utilized to establish a specific genetic diagnosis for PAI in patients who have no specific diagnostic features.
| S-EPMC7947721 | biostudies-literature
Project description:BACKGROUND:Fibromuscular dysplasia (FMD) is a non-inflammatory vascular disease that in children unlike in adults shows no sex predilection. FMD is often underdiagnosed, and its pathophysiology is unclear. Delayed diagnosis may lead to refractory hypertension and decreases the chance of successful treatment. Doppler ultrasound (US), magnetic resonance angiography (MRA), computed tomography angiography (CTA), and catheter-based angiography (angiography) are currently used to help make a clinicoradiological diagnosis of FMD. The main aim of the study was to compare the efficacy of imaging modalities which can allow for earlier and improved detection. Furthermore, an anatomical mapping of the location of lesions can help determine the best treatment modalities. METHODS:All patients with non-syndromic non-inflammatory renovascular hypertension were recruited from the Nephrology Department at the Children's Hospital of Philadelphia (CHOP) and enrolled in the U.S. FMD Registry maintained at the University of Michigan. Clinical presentation and imaging findings on US, CT, and MRI of children diagnosed with FMD were evaluated. RESULTS:Mean age at diagnosis was 7?±?4.9 years (4 months-17 years). Family history of hypertension (HTN) (52%), FMD (8.7%), Caucasian (60%), headache (48%), and HTN (80%) were the most prevalent symptom and sign at presentation. Bruits were 100% specific for renal artery stenosis (RAS) diagnosis but were heard in the minority of patients (3 patients, 12%). FMD was mainly unifocal within a single site (68%) or multiple sites (28%) and involved the main or first order renal branch in about 68% of children. Isolated distal lesions beyond the second order branches were found in about 25% of children. US imaging was significantly less sensitive than angiography (28%, p?=?0.003). MRA had a better sensitivity (62.5%, p?=?0.3) than US. Overall, CTA had the best sensitivity (84.2%, p?=?0.4) compared to angiography; however, only angiography showed distal vessel disease. CONCLUSIONS:Limitations of the study include the sample size and biases-only patients diagnosed with FMD were included in this study and most patients were referred to a pediatric nephrologist for unexplained hypertension. Angiography should be performed as part of the initial work-up of any child suspected of having renovascular FMD, regardless of the findings seen on US, MRA, or CTA.
| S-EPMC6082421 | biostudies-literature
Project description:Obesity is considered a global chronic disease requiring weight management through lifestyle modification, pharmacotherapy, or weight loss surgery. The dramatic increase in patients with severe obesity in Saudi Arabia is paralleled with those undergoing bariatric surgery. Although known to be beneficial in the short term, the long-term impacts of surgery within this group and the sustainability of weight loss after surgery remains unclear. We aimed to assess the long-term weight outcomes after bariatric surgery. The study was conducted at King Khalid University Hospital (KKUH), King Saud University Medical City (KSUMC) in Riyadh, Saudi Arabia. An observational prospective cohort study on adult patients with severe obesity undergoing bariatric surgery (sleeve gastrectomy (SG) or Roux-en Y gastric bypass (RYGB)) during the period between 2009 and 2015 was conducted. Weight loss patterns were evaluated pre- and post-surgery through clinical and anthropometric assessments. Absolute weight loss was determined, and outcome variables: percent excess weight loss (%EWL), percent total weight loss (%TWL), and percent weight regain (%WR), were calculated. Statistical analysis using univariate and multivariate general linear modelling was carried out. A total of 91 (46 males and 45 females) patients were included in the study, with the majority belonging to the SG group. Significant weight reductions were observed at 1 and 3 years of follow-up (p < 0.001) from baseline. The %EWL and %TWL were at their maximum at 3 years (72.4% and 75.8%) and were comparable between the SG and RYGB. Decrements in %EWL and %TWL and increases in %WR were seen from 3 years onwards from bariatric surgery until the study period ended. The yearly follow-up attrition rate was 20.8% at 1 year post-surgery, 26.4% at year 2, 31.8% at year 3, 47.3% at year 4, 62.6% at year 5, and 79.1% at end of study period (at year 6). The major challenge to the successful outcome of bariatric surgery is in maintaining weight loss in the long-term and minimizing weight regain. Factors such as the type of surgery and gender need to be considered before and after surgery, with an emphasis on the need for long-term follow-up to enssure the optimal benefits from this intervention.
| S-EPMC8584307 | biostudies-literature