Graves' disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves' disease are multisystemic and include thyroid ...orbitopathy; pretibial myxedema, also referred to as thyroid dermopathy; and thyroid acropachy, described as a severe form of thyroid dermopathy. Our paper focuses on an atypical case of thyroid dermopathy.
An 11-year-old Saudi male presented with a prominent diffuse goiter and exophthalmos. Investigations were consistent with a diagnosis of Graves' disease. The physical exam showed diffuse, non-pitting swelling of the ankle and penis, mimicking a lymphatic malformation. Further, multiple nodules were found on the hands and feet. Treatment of the nodules with cautery resulted in more severe nodules.
This report describes rare presentations of thyroid dermopathy mimicking lymphatic malformation. The Koebner phenomenon can explain this patient's atypical presentations. Intralesional injections of triamcinolone and total thyroidectomy showed clear improvement.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
•The high-flow nasal cannula (HFNC) has recently been approved for use in pediatric care and is receiving much attention in various clinical settings.•Compared with traditional oxygen therapies, HFNC ...may improve systemic oxygen saturation, reduce heart rate and partial blood pressure, and improve the PaO2/FiO2 ratio, reducing anatomical dead space.•However, some studies reported a complication rate concurrent with traditional oxygen therapies, and a suggested HFNC failure rate of 50% was observed.•Future studies should investigate the use of HFNC therapy and its feasibility in the pediatric population.
The high-flow nasal cannula (HFNC) has received much attention in various clinical settings and has been approved recently for application in pediatric care.
To determine whether HFNC use improves cardiopulmonary outcomes in pediatric patients with the cardiac disease more effectively than alternative oxygen therapies.
Systematic review was performed using PubMed, Scopus, and Web of Science databases. Randomized controlled trials comparing HFNC with alternative oxygen therapies and observational studies that solely reported on the use of HFNC in the pediatric population were included between 2012 and 2022.
Nine studies with approximately 656 patients were reported in this review. HFNC significantly increased systemic oxygen saturation across all literature investigating this parameter. Other notable outcomes in HFNC patients included normalizing heart rate, partial blood pressure, and PaO2/FiO2 ratio. However, some studies reported a complication rate concurrent with traditional oxygen therapies, and a suggested HFNC failure rate of 50% was observed.
Compared with traditional oxygen therapies, HFNC can reduce anatomical dead space and normalize systemic oxygen saturation, PaO2/FiO2 ratio, heart rate, and partial blood pressure. We advocate using HFNC therapy in children with cardiac diseases as the currently available evidence supports HFNC use over other oxygenation treatments in the pediatric population.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPUK, ZAGLJ, ZRSKP
Abstract Background: A notable shift in healthcare policy is healthcare privatization, which refers to the transfer of ownership, management, or provision of healthcare services from the public ...sector to private entities. Objectives: To provide a narrative examination of the impact of privatization on various dimensions of healthcare, including quality, equity, accessibility, and cost-effectiveness. Policymakers can utilize the findings of this study to make well-informed decisions regarding privatization strategies. Materials and Methods: A systematic review was implemented using the following databases: PubMed, Scopus, and Google Scholar. Studies conducted from January 2000 to January 2023 in developing or developed countries that assessed the impact of healthcare privatization on population health within public sector institutions were included. Results: Eleven studies were included. The findings revealed diverse perspectives on the impact of healthcare privatization, with four studies (36.4%) supporting privatization (two of these were conducted in Saudi Arabia), six studies (54.5%) opposing it (three of these were conducted in European countries), and one study (9.1%) taking a neutral stance. Two studies investigated the impact on healthcare quality, and both revealed that privatization negatively impacts uninsured patients and low-income populations. In addition, five studies investigated the healthcare access and equity dimensions following privatization: one was in favor, one was neutral, and three were opposing it. Four studies investigated the cost-effectiveness dimension, with three in favor and one study opposing it. Conclusion: This review highlights different perspectives on healthcare privatization. While studies, as those from Saudi Arabia, suggest benefits in terms of efficiency and innovation, others, particularly from European countries, emphasize negative consequences such as inequity and reduced quality. This emphasizes the need for more investigations to understand privatization’s impact on healthcare.
Introduction Hereditary Vitamin D-dependent rickets type II (HVDDR-type II) is a rare autosomal recessive disorder caused by molecular variation in the gene encoding the vitamin D receptor (VDR). ...This study aims to evaluate phenotype and genotype characteristics and long-term follow-up of the largest group of patients with (HVDDR-type II) in Saudi Arabia. Methodology We conducted a retrospective chart review to collect the clinical, biochemical, and genetic data for all HVDDR-type II patients currently receiving treatment at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. Results A total of 42 patients, 57.1% female, and 42.9% male were included in the study. Seven patients were treated with high doses of oral calcium, while 35 patients were treated with IV calcium infusion. The median age at presentation was 15.5 months. Alopecia was found in 97.6%, 21.4% presented with bowing legs, 14.3% with delayed walking, 9.5% with seizure, and 2.4% presented with respiratory failure, while a family history of the disease was positive in 71.4% of total patients. Molecular genetic testing of the VDR gene in our cohort identified six different gene variants c.885 C>A (p.Tyr295Ter), c.88 C>T (p.Arg30Ter), c.1036G>A (p.Val346Met), c.820C>T (p.Arg274Cys), c.803 T>C (p.Ile268Thr), and c.2T>G (p.Met1?). Conclusion We are describing the largest cohort of patients with HVDDR-type II, their clinical biochemical findings, and the most prevalent genetic variants in our population.
Munchausen syndrome by proxy: a case report Alkhattabi, Fadiah; Bamogaddam, Israa; Alsagheir, Afaf ...
Journal of medical case reports,
04/2023, Volume:
17, Issue:
1
Journal Article
Peer reviewed
Open access
Inappropriately high levels of insulin secretion can cause the potentially fatal condition of persistent hyperinsulinemic hypoglycemia of infancy. Our paper focuses on another cause of severe ...hypoglycemia, which can be easily missed.
An 18-month-old Saudi female was referred to our hospital for further investigation and management of her recurrent hypoglycemic attacks as a case of persistent hyperinsulinemic hypoglycemia of infancy. During admission, we noticed multiple red flags from the history; the mother was insisting on a pancreatectomy, rather than going for a positron emission tomography scan, and most importantly, all hypoglycemic attacks occurred while the mother was around. Consequently, after further investigation, the case was diagnosed as a caregiver-fabricated illness, and the case was referred to the Child Protection Center.
One must have a high index of suspicion to diagnose caregiver-fabricated illness. Physicians should be more attentive to prevent such a disease, which could eventually become lethal if left unnoticed.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Background
The burden of respiratory syncytial virus (RSV) in high-risk pediatric patients remains unclear. Therefore, this study aims to characterize pediatric RSV cases from January 2019 to ...December 2022 and assess the impact of the COVID-19 pandemic on RSV burden and RSV-related outcomes. In addition, examining factors influencing RSV-related hospitalization.
Methods
This is a retrospective study that included pediatric patients (aged 14 and below) who presented at King Faisal Specialist Hospital and Research Centre (KFSHRC) in Riyadh, Saudi Arabia with RSV infection identified using real-time reverse-transcriptase polymerase chain reaction assays. Statistical analyses were performed using STATA.
Results
A total of 885 RSV cases were reported; (56.05%) were males and (43.95%) were females with a median age of 24 months interquartile range (IQR): 11–60. 534 (60.34%) required hospitalization. As for RSV seasonality, there was a significant increase in RSV prevalence following the COVID-19 pandemic, escalating from 205 cases in 2019 to 425 cases in 2022. The increase in 2022 was evident in January and persisted from September to December, reaching its peak during the months of October (20.70% − 88 cases) and November (32.00% − 136 cases). About (27.12%) of RSV infected children were medically free patients. Symptomatic patients exhibited various clinical manifestations, with ventilation necessary in (13.11%) of cases. Further analysis revealed significant changes in RSV-related outcomes post-COVID-19, including a decrease in hospitalization rates, an increase in medically free patients, and a lower need for ventilation (
p
< 0.05). Notably, a significant proportion of RSV admissions occurred within the first 6 months of life, with (77.69%) in the age group of 0 to 5 months. In addition, previous RSV infection, prematurity, low birth weight, renal disease, congenital heart disease, endocrine/metabolic disease, neuro/neuromuscular diseases, and genetic disorders were positively associated with hospitalization (
P
< 0.05). Interestingly, asthma and bone marrow transplantation were negatively associated with hospitalization (
P
< 0.05). The mortality rate in this study is (2.37%) (21/885).
Conclusion
This study provides a comprehensive understanding of the demographic and clinical factors influencing RSV outcomes, highlighting the impact of the COVID-19 pandemic and shedding light on potential risk factors for RSV-related hospitalization. The highest prevalence of RSV during (September to January), aligning with global patterns and emphasizing the importance of timing in preventive strategies.
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. KCI Citation Count: 0
Rickets is a childhood disorder of vitamin D deficiency that is characterized by growth retardation and impairment in skeletal mineralization. Vitamin D deficiency is usually due to decreased dietary ...vitamin D intake, decreased sunlight exposure, or genetic defects. A recurrent gain-of-function missense mutation (p.I301T) in the gene encoding
has been identified as a cause of excessive inactivation of vitamin D metabolites that causes vitamin D-dependent rickets type 3 (VDDR3). We hereby report a case of a six-year-old girl with poor growth and bone deformities, such as genu valgum. In addition, the patient has a strong family history of short stature and bone deformities. She continues to receive multidisciplinary care, and the finding of a heterozygous missense variant in
: c.902 T > C; p.Ile301Thr in the
gene confirms the diagnosis of VDDR3. To our knowledge, this is the first case to be reported in Saudi Arabia and the fourth case in the literature. Our findings highlight the importance of vitamin D in those with high activity in
to maintain vitamin D hemostasis, and we need to reach optimal doses to help them maintain their biochemical and radiological finding within the normal range.
We report a Munchausen syndrome by proxy (MSBP) case, which presented as pharyngeal dysphagia and an acquired tracheoesophageal fistula (TEF). A six-month-old Saudi male presented with fever, ...persistent oral ulcers, intermittent bleeding from the ulcers, failure to thrive (FTT), poor appetite, and possible genetic disease. He had a history of recurring admissions due to infections, including those affecting the chest, ear, and bowel. Additionally, he tested positive for vancomycin-resistant enterococcus. There was no history of surgical procedures or blood transfusions. Due to the patient's nutritional status, a gastrostomy tube was inserted. The patient had recurrent bleeding from the tracheostomy tube during the hospital stay despite normal coagulation and platelet profile. Consequently, after diagnostic laryngoscopy, the otolaryngologist specialist pointed out that such retropharyngeal injuries are seen in patients with inflicted injuries, which is, in this case, caused by the mother, as she was the only one with the child during the recurrent bleeding episodes. Thus, we describe a clinical instance of MSBP, especially imitating pharyngeal dysphagia, leading to a delayed diagnosis. We advise adding MSBP to the possible diagnoses upon encountering pharyngeal dysphagia and oral ulcers.
