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1.
Sudan J Paediatr ; 24(1): 10-20, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38952627

RESUMO

The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. This report is about the first data and the challenges we faced during SPYDR initiation. Patients were identified from the electronic medical records of the Saudi NGHA hospitals using the International Classification of Disease (ICD-10). A trained coordinator verified the diagnosis and entered patients' details into the registry and a random sample was validated by experienced endocrinologists. The data were analyzed according to patients' demography, diabetes subtypes, duration, control, and complications. The challenges faced by the team were identified and addressed. At the time of manuscript submission, 2,344 individuals were enrolled. Their mean age at diagnosis was 9.08 (±4.27) years and 1,136 (48.46%) were females. Of these, 91.3% have type 1 (T1D), and 6.4% have type 2 diabetes (T2D). The mean HbA1c was 10.45% (±2.36) and duration of diabetes was 5.31 (±3.05) years. The main challenges included the COVID-19 pandemic, data validation, and centers' participation. However, within 12 months of initiation enrolled subjects matched the expected number. Despite the challenges, the first step of SPYDR was achieved. The initial data confirmed that T1D is the most common form of childhood diabetes, and the frequency of T2D is comparable to regional and international data. SPYDR provides the infrastructure for data sharing and collaborative research with the enrollment of patients from other Saudi healthcare institutes.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38614130

RESUMO

Summary: X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14 cases of XLH from Gulf Cooperation Council (GCC) countries. The patients' medical history, biochemical and radiological investigative findings, as well as treatment responses and side effects from both conventional and burosumab therapy, are described. Cases were aged 2-40 years at diagnosis. There were two male cases and 12 female cases. All cases were treated with conventional therapy which resulted in a lack of improvement in or worsening of the clinical signs and symptoms of rickets or biochemical parameters. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. In the 10 patients treated with burosumab, there was a marked improvement in the biochemical markers of rickets, with a mean increase in serum phosphate of +0.56 mmol/L and tubular maximum phosphate reabsorption (TmP) to glomerular filtration rate (GFR) ratio (TmP/GFR) of +0.39 mmol/L at 12 months compared to baseline. Furthermore, a mean decrease in serum alkaline phosphatase (ALP) of -80.80 IU/L and parathyroid hormone (PTH) of -63.61 pmol/L at 12 months compared to baseline was observed in these patients. Additionally, patients treated with burosumab reported reduced pain, muscle weakness, and fatigue as well as the ability to lead more physically active lives with no significant side effects of treatment. Learning points: Conventional therapy resulted in a suboptimal response, with a lack of improvement of clinical signs and symptoms. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. Burosumab demonstrated marked improvements in the biochemical markers of rickets, in addition to reducing pain, muscle weakness, and fatigue. There were no significant side effects associated with burosumab therapy.

3.
Int J Immunopathol Pharmacol ; 37: 3946320231209821, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37953627

RESUMO

OBJECTIVE: The aim of this study was to investigate the role of cytokines in children with T1D living in Saudi Arabia and their correlation with disease duration and autoimmune antibody markers. METHODS: A case-control study was conducted in the endocrine clinic of King Abdullah Specialized Children's Hospital in Riyadh. A total of 274 T1D and healthy control children were enrolled in the study. 5 mL of venous blood samples were collected in the morning after 9 to 12 h of fasting in BD Vacutainer® EDTA tubes and centrifuged at 250g for 15 min at. Plasma was then stored at -20°C for detection of anti-islet, anti-GAD antibodies (Abs), and C-peptide using commercial ELISA kits from Thermo Fisher Scientific. The levels of cytokines were measured using commercial sandwich ELISA kits from Abcam. RESULTS: Median differences in cytokine levels (IFN-γ, TNF-α, IL-1ß, IL-2, IL-4, IL-6, IL-10, IL-13, IL-18, IL-21, IL-35, and IL-37) were significantly higher in T1D patients compared with healthy controls (p-value < .001). Spearman's Rho correlation indicated that TNFα, IL-1ß, IL-4, IL-10, IL-13, and IL-21 correlated significantly with T1D Abs (p-value = .01). HbA1C correlated negatively with IL-35 and IL-37, and positively with IL-18 (p-value = .01). Linear regression analysis showed a significant increase in anti-glutamic acid antibodies (GAD) in patients with >3 years of T1D duration. CONCLUSION: Autoantibodies remained positive at high levels in our patients over a 3-year duration of the disease and correlated with specific cytokines. The clear correlations with disease duration and profile of specific cytokines could be targets for future therapeutic interventions.


Assuntos
Diabetes Mellitus Tipo 1 , Humanos , Criança , Diabetes Mellitus Tipo 1/diagnóstico , Interleucina-10 , Interleucina-18 , Estudos de Casos e Controles , Interleucina-13 , Interleucina-4 , Citocinas , Fator de Necrose Tumoral alfa , Autoanticorpos
4.
Clin Med Insights Endocrinol Diabetes ; 16: 11795514231203907, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37867504

RESUMO

Background: Lockdown was a unique experience that affected many aspects of life, particularly during the challenge of Ramadan fasting (RF). Studying this can increase understanding of the effects of lifestyle changes on quality of life (QoL) for children with type 1 diabetes (T1D) during RF. Methods: A cross-sectional study that assessed the effect of lockdown on lifestyle and QoL on fasting children living with T1D during Ramadan in the Middle East and North Africa region (2020-2021). We compared the child (self) and parent (proxy) reports using PEDQoL v3.0 disease specific questionnaire during lockdown and non-lockdown periods, and assessed correlations with lifestyle changes using regression and gap analyses. Results: A total of 998 reports from 499 children with T1D aged 8 to 18 years (study = 276, control = 223), and their parents during RF in lockdown and non-lockdown periods. Fathers were more involved in their children's care during lockdown (P = .019). Patients had better compliance with treatment (P = .002), a reversed sleep pattern (P = .033), increased food intake (P ⩽ .001), and less exercise (P < .001). Children and parents perceived better QoL during lockdown (P ⩽.001) with no differences between their reports in "Diabetes Symptoms", "Treatment Adherence," and "Communication" domains. Self and proxy reports were different in all domains during non-lockdown (P = <.001-.009). In gap analysis, although not statistically significant, the gap was approximated between children's and parents' perceptions in all domains during lockdown. Conclusion: COVID-19 lockdown had a positive impact on QoL of children living with T1D during RF, possibly due to lifestyle changes and superior psychosocial family dynamics.

5.
Front Endocrinol (Lausanne) ; 14: 1122435, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37347111

RESUMO

Background: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires lifelong treatment. Patients may face stigmatization, which may affect their quality of life (QoL). Therefore, we assessed the clinical characteristics and QoL of patients with CAH in the Middle East. Methods: This case-control study included patients with CAH aged >5 years from two tertiary centers (2020-2021). The patients were matched to a healthy control group and were then divided into pediatric and adult groups. Data were collected from their electronic medical records. Additionally, the EQ-5D-5L QoL questionnaire was completed by both the patients and control group to assess five domains (mobility, self-care, usual activities, pain/discomfort, and anxiety/depression). Results: The study included 248 patients with CAH (females: 58.8%), with a family history of the condition (57.3%) and/or parental consanguinity (68.1%). The most frequently reported gene defect was CYP21A2, while the most commonly reported symptoms/signs were ambiguous genitalia and obesity. Almost all female patients had received corrective surgery. The questionnaire response rate was 86.3% (n=214/248). The CAH patient group's mean total QoL score was 85.2 compared with 99.8 in the control. Further, CAH patients had lower QoL scores in all domains compared to those in the control group (p ≤ 0.0001-0.0023). The pain/discomfort and anxiety/depression domains were affected significantly more than the other domains were, with 47.7% and 44.4% participants, respectively, p<0.0001. Additionally, obesity was found to be a predictor of reduced mobility following a logistic regression analysis (p ≤ 0.04, OR (0.18-0.98)). Conclusion: Patients with CAH reported lower QoL overall, particularly in the pain/discomfort and anxiety/depression domains. Based on this, we recommend the early involvement of psychologists in a multidisciplinary team approach, pre-marital screening, and the implementation of awareness programs for people diagnosed with CAH in communities with high consanguineous mating.


Assuntos
Hiperplasia Suprarrenal Congênita , Transtornos do Desenvolvimento Sexual , Humanos , Criança , Adulto , Feminino , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Qualidade de Vida , Estudos de Casos e Controles , Obesidade , Esteroide 21-Hidroxilase
6.
Cureus ; 15(1): e33224, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36733550

RESUMO

Factitious hypoglycemia in infancy is a rare, life-threatening manifestation of Munchausen syndrome by proxy (MSBP). The hallmark of such presentation is the detection of low c-peptide combined with high insulin at the time of hypoglycemia. We report the case of a male infant who presented with recurrent severe unexplained hypoglycemic episodes since the age of six months. Two of his siblings had similar unexplained hypoglycemia episodes at a young age. He was extensively investigated, and all were normal, for endocrine and metabolic etiologies. He underwent fundoplication and insertion of a gastrostomy tube with multiple lengthy hospital admissions. His mother had diabetes and was on insulin treatment; she also had mental health issues with family-related social stressors. His hypoglycemic attacks resolved once separated briefly from his mother on the ward, raising our suspicion of MSBP. The exogenous administration of insulin was only confirmed following a scheduled change of our local Insulin assay in our laboratory when his insulin was detectable with low C-peptide on one of his typical attacks. Apparently, our previous insulin immunoassay lacked sensitivity for his mother's long-acting insulin. We are reporting this case to raise awareness about this potential diagnostic pitfall.

7.
Sudan J Paediatr ; 23(2): 187-198, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38380411

RESUMO

The objective is to assess the feasibility, barriers, expectations and motivation of health trainees in Saudi Arabia regarding medical missions. This study seeks to fill the gap in global health curricula and regulations, as well as provide guidance for trainees participating in international health electives in Saudi Arabia. This cross-sectional survey of health trainees (in medical, surgical and other allied health professions) was conducted across Saudi Arabia from March 2017 to February 2018 using a standardised survey adapted to assess expectations, barriers, awareness of available opportunities and the effect of mentorship in improving motivation toward medical missions. A total of 589 respondents completed the survey, with a response rate of 83.7%. Most respondents were under 35 years old, with an equal sex distribution. Furthermore, the respondents primarily had medical and surgical specialties training and graduated from the western region of Saudi Arabia. Health trainees who considered volunteering during training but did not have previous experience in missions acknowledged that the presence of a staff member experienced in missions in their training environment positively affected their interest in missions (p = 0.038). The most common reasons for interest in volunteerism were to enhance one's own technical and clinical skills and help others in need. Interest in tourism and learning about new cultures are additional reasons. Only 7/589 participants had experience and expressed the barriers they faced during volunteerism. Interestingly, their colleagues who did not have a similar experience perceived almost the same barriers. A major barrier faced by experienced participants was the 'lack of elective time', compared to the 'lack of available organised opportunities' by the inexperienced group. In conclusion, coordinating health trainees' missions through a unified authoritative body would provide better opportunities, override challenges and improve their perceptions and participation in these missions.

9.
Curr Pediatr Rev ; 2022 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-36545738

RESUMO

With advances in neonatal care, bone fractures prior to discharge from the hospital in preterm infants receiving contemporary neonatal care, are rare. Nevertheless, such fractures do occur in very low birth weight and extremely low birth weight infants who go on to develop metabolic bone disease of prematurity (MBDP), with or without secondary hyperparathyroidism. MBDP is a multifactorial disorder arising from the disruption of bone mass accrual due to premature birth, postnatal immobilisation, and loss of placental oestrogen resulting in bone loss, inadequate provision of bone minerals from enteral and parenteral nutrition, and medications that leach out bone minerals from the skeleton. All of these factors lead to skeletal demineralisation and a decrease in bone strength and an increased risk of fractures of the long bones and ribs. Secondary hyperparathyroidism resulting from phosphate supplements, or enteral/parenteral feeds with a calcium-to-phosphate ratio of < 1.3:1.0 leads to subperiosteal bone resorption, cortical thinning, and further skeletal weakening. Such fractures may occur from routine handling and procedures such as cannulation. Most fractures are asymptomatic and often come to light incidentally on radiographs performed for other indications. In 2015, we instituted a comprehensive and multidisciplinary Neonatal Bone Health Programme (NBHP), the purpose of which was to reduce fragility fractures in high-risk neonates, by optimising enteral and parenteral nutrition, including maintaining calcium-to-phosphate ratio ≥1.3:1, milligram to milligram, biochemical monitoring of MBDP, safe-handling of at-risk neonates, without compromising passive physiotherapy and skin-to-skin contact with parents. The at-risk infants in the programme had radiographs of the torso and limbs at 4 weeks and after 8 weeks from enrolment into the program or before discharge. Following the introduction of the NBHP, the bone fracture incidence reduced from 12.5% to zero over an 18-month period.

10.
BMC Pediatr ; 22(1): 642, 2022 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-36335310

RESUMO

BACKGROUND: Goiter is a common presenting sign of various thyroid diseases in children. Thyroid nodules are clinically and/or radiologically significant findings due to their high malignancy rate. The ultrasound (US) characteristics of pediatric patients with goiter are rarely reported in literature; thus, the purpose of this study is to assess the characteristics of thyroid US and the prevalence of thyroid nodules in pediatric patients with goiter. METHODS: A retrospective review of children and adolescents under the age of 18 (2015-2020) referred for neck ultrasound due to goiter in clinical examination. RESULTS: A total of 262 patients were included with a mean age of 13.77 ± 3.7 years. Thyroid antibodies were positive in 119/262 (45.4%) patients. Thyroid US reported to be abnormal in 210/262 (80%) patients. Thyroid nodule were found in 33.6% (n = 88/262) of patients with goiter and in 41.9% (n = 88/210) of patients with abnormal thyroid US result. Patients with positive antibodies had more of heterogeneity and hypervascularity of the gland on thyroid US (P < 0.001). On the other hand, thyroid nodules were more likely to be presented in patients with negative thyroid antibodies (P = 0.025). The heterogeneity within the thyroid positive group was significantly correlated with increasing TPOAb (P < 0.001) and TSH levels (P < 0.028). Heterogeneity on US had a positive predictive value (P = 0.041), while hypervascularity had low prediction for thyroid nodules (P = 0.022). Age, gender, family history of thyroid diseases, antibodies status and echogenicity in US did not show any significant associations with thyroid nodules. Papillary thyroid carcinoma was diagnosed in six patients and one of these patients was positive for thyroid antibodies. CONCLUSION: Thyroid nodules are quite common in our population. Thyroid nodules were significantly associated with heterogeneity in US. Although, no clinical or biochemical factors could predict the presence of thyroid nodules on thyroid US in our cohort, the absence of thyroid antibodies should lower the threshold for performing thyroid US.


Assuntos
Bócio , Nódulo da Glândula Tireoide , Adolescente , Humanos , Criança , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/patologia , Prevalência , Bócio/diagnóstico por imagem , Bócio/epidemiologia , Ultrassonografia , Estudos Retrospectivos
11.
Sci Rep ; 12(1): 16888, 2022 10 07.
Artigo em Inglês | MEDLINE | ID: mdl-36207522

RESUMO

Dyslipidemia is a major risk factor for atherosclerosis. Screening for dyslipidemia at an early age is essential to prevent and control its consequences. This study aimed to determine prevalence of dyslipidemia and its correlates among adolescents in Saudi Arabia. Data of 5854 adolescents aged 10-19 years from all 13 regions of Saudi Arabia were obtained from the Jeeluna study; a national cross-sectional, multistage stratified cluster sample survey. Dyslipidemia was defined based on the National Heart Lung and Blood Institute and National Cholesterol Education Program guidelines for adolescents. We found that a quarter of Saudi adolescents have dyslipidemia (males: 33.3%, females: 17.9%). Significant variation was observed by region (p < 0.001). Prevalence of abnormal Total Cholesterol was 6.7%, LDL-C 7.1%, HDL-C 12.8%, Non-HDL-C 8.3%, and Triglycerides 9.6%. Factors independently associated with dyslipidemia were male gender (OR = 2.19, 95% CI 1.78-2.70, p < 0.001), BMI (underweight OR = 0.80, 95% CI 0.69-0.94, overweight OR = 1.76, 95% CI 1.50-2.06, obese OR = 2.80, 95% CI 2.34-3.34, p < 0.001, vs. normal) and serum ferritin (high OR = 7.02, 95% CI 1.49-34.79, low OR = 0.82, 95% CI 0.67-1.01, p = 0.04 vs. normal) and ≥ 1 daily intake of carbonated beverage (OR = 1.10, 95% CI 1.00-1.20, p = 0.03 vs. no or not daily intake). Public health interventions for improving lipid profile of adolescents are urgently needed.


Assuntos
Dislipidemias , Adolescente , Colesterol , HDL-Colesterol , LDL-Colesterol , Estudos Transversais , Feminino , Ferritinas , Humanos , Masculino , Prevalência , Fatores de Risco , Arábia Saudita/epidemiologia , Triglicerídeos
12.
Int J Endocrinol ; 2022: 4343596, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36311910

RESUMO

Objective: Puberty has a significant contribution to the final height. Therefore, it is crucial to understand the normal variations in the onset and tempo of puberty in a specific population. In this study, we aimed to provide normative data on the timing of puberty and late pubertal height (LPH) in Saudi schoolboys in Riyadh. Methods: This is a cross-sectional field study (2011-2013) including Saudi schoolboys (grades 1-12; aged 6 to 19 years). Schools were chosen to represent the population from urban and rural areas in the Riyadh region. Pubertal maturity staging for gonads was assessed by measuring testicular size using a Prader orchidometer and assessing the Tanner staging of pubic hair. The marginal mean age was calculated using regression analysis. Results: We recruited 1086 schoolboys. The estimated mean age of pubertal onset at G2 was 11.8 (95% CI 11.60-12.0) years, for gonadal development at G3 was 13.2 (95% CI 12.9-13.5), G4 = 15.0 (95% CI 14.7-15.2), and G5 = 16.1 (95% CI 15.9-16.3) years, and for pubic hair stage 2 (PH2) was 12.6 (95% CI 12.4-12.9) years. The estimated time from G2/PH2 to G5/PH5 was 4.3 and 3.9 years, respectively. At the onset of puberty, the mean height was 144.7 cm and it reached 167.8 cm at G5 with a pubertal height gain of 23.1 cm. Conclusion: Our data present the norms of the timing of puberty and LPH in Saudi schoolboys. Saudi adolescent males are shorter than some European and American comparatives mainly due to shortness during childhood. However, they could have shorter LPH than Turkish, Greek, Thai, and Japanese due to a less pubertal height gain.

13.
Clin Med Insights Endocrinol Diabetes ; 15: 11795514221128495, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36313241

RESUMO

Objectives: Comparison of continuous subcutaneous insulin infusion (CSII) with multiple daily injections (MDI) in achieving glycemic control in youths with type 1 diabetes mellitus (T1DM). Methods: Retrospective cohort study including 2 matched groups of youths with T1DM treated by CSII or MDI in a tertiary specialized children's hospital in Saudi Arabia. Children and adolescents aged up to 18 years, diagnosed with T1DM and using CSII or MDI, from the period 2016 to 2018. Patients on MDI were newly-diagnosed patients with T1DM who had the disease for only 1 year duration; all CSII patients had at least 1 to 2 years of T1DM but who had just started on pumps in the past 3 months. We excluded patients with other autoimmune diseases, non-ambulatory patients and those admitted to hospital for non-diabetes reasons. Primary outcome was HbA1c at 1, 2, and 3 years, with weight gain as a secondary outcome. Ambulatory glycemic profile was analyzed from a subset of patients using intermittently scanned continuous glucose monitoring (isCGM). Results: A total of 168 youths with T1DM (n = 129 in the MDI group, n = 39 in the CSII group) were included. The CSII group consistently had lower HbA1c levels compared to the MDI group throughout a 3-year follow up period: 8.1% versus 10.1, P-value < .001 at 1 year, 7.5% versus 10.1% at 2 years, P-value < .001, 8.9% versus 10.3% at 3 years, P-value = .033. Body mass index significantly increased in both groups at 1 year, although greater in CSII group. In a subgroup using isCGM (n = 37 on MDI and n = 29 on CSII), the CSII group had a lower average blood glucose (194 mg/dL vs 228 mg/dL, P-value = .028) and a lower estimated HbA1c level (8.4% vs 9.6%, P-value = .022). Conclusion: Treatment with CSII resulted in lower HbA1c compared to MDI in our cohort, which was sustained over a 3-year period.

14.
J Pediatr Endocrinol Metab ; 35(6): 795-802, 2022 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-35585761

RESUMO

OBJECTIVES: Endocrinopathy can occur as a postoperative sequel in children treated for supratentorial tumors (STTs). We assessed prediction of a residual hypothalamic/pituitary insufficiency (HPI) in these patients and factors associated with prolonged length of hospital stay (LOS). METHODS: This is a retrospective cohort study of children who had surgery for STTs in two tertiary centers in Saudi Arabia (2009-2019). We assessed PICU postoperative management and risk of HPI. Data were analyzed using SPSS V24.0 and a logistic regression model for a prediction of a prolonged LOS. RESULTS: Data included 55 children (1-18 years, mean 9.5 ± 4.9 years) who required STT surgeries, 32 (54%) females. Craniopharyngioma (27.3%) was the commonest STTs and 20% of patients had initial symptoms of HPI. PICU management included the use of different types of intravenous fluids (IVFs) and medications such as steroids and desmopressin (DDAVP). An early postoperative DI was reported in 21.8% (n=12/55). Residual HPI included 24 (43.6%) presumed cortisol deficient and 18 (32.7%) central DI patients. Risk factors for postoperative HPI were female gender, age <6 years, headache and preoperative pituitary symptoms. LOS (Median=25.5 ± 12.2 days) was significantly prolonged in patients who required two or more doses of DDAVP [B=13; 95% CI= (1.7-24.3) days] and reduced in patients who had suspected preoperative HPI [B=-19.6; 95% CI= (-31.1, -8.2) days]. CONCLUSIONS: Prediction of postoperative HPI in pediatric STTs enhances an early initiation of treatment in PICU and reduces LOS. A meticulous use of IVF and medications supervised by a multidisciplinary team is essential for a favorable outcome.


Assuntos
Doenças da Hipófise , Neoplasias Hipofisárias , Neoplasias Supratentoriais , Pré-Escolar , Cuidados Críticos , Desamino Arginina Vasopressina , Feminino , Humanos , Tempo de Internação , Masculino , Neoplasias Hipofisárias/cirurgia , Estudos Retrospectivos
15.
Cureus ; 14(2): e22127, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35308707

RESUMO

Aim The aim of this study was to assess the prevalence and clinical characterization of bocavirus infection in patients admitted with respiratory symptoms to a specialized children's hospital in Riyadh, Saudi Arabia. Methods This is a retrospective cross-sectional study that included children aged 0-14 years and was conducted over a two-year period (2017-2019). All data were gathered from an electronic information recording system, which included patients' demographics, comorbidities, clinical presentation, complication, and duration of hospitalization. Results Among all patients (11,709) admitted to King Abdullah Specialized Children's Hospital with predominant respiratory symptoms during the study period, 193 (1.6%) patients had bocavirus infections. Most of the patients were diagnosed in winter months. Cough was the primary presenting symptom (91.7%) followed by fever (83.4%). Gastrointestinal symptoms were also common (anorexia in 62% and vomiting in 39%). In 80% (n=154/193) of cases, bocavirus co-existed with other viruses, namely, human rhinovirus (45.8%), human adenovirus (31.2%), and respiratory syncytial virus type A (17.5%). Moreover, those who required oxygen supply stayed longer in the hospital (p<0.001) and were more likely to receive multiple medications such as bronchodilators (p<0.001), corticosteroids (p<0.001), and nebulized racemic epinephrine (p>0.05). Children infected with bocavirus and co-existing viruses were less likely to require oxygen supply (p<0.050). Conclusion Bocavirus infection is more common during winter months and predominantly affects respiratory and gastrointestinal systems in children. More studies are needed to evaluate the global impact of this recently recognized infection.

16.
Case Rep Endocrinol ; 2022: 7072815, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35265381

RESUMO

Vitamin D intoxication (VDI) usually develops due to inappropriate use of vitamin D in high doses by the families of infants with complaints suggestive of vitamin D deficiency such as delayed teething, knock knees, or delayed walking. We present here an experience of treating an infant with asymptomatic VDI that had a prolonged course of recovery and a sustainable level of vitamin D over a follow-up period of 2.5 years. In our patient, vitamin D started to drop steadily after a month of stopping vitamin D supplements but not to a normal level. It reached an acceptable level only after six months. This case emphasizes the importance of educating parents about the empirical use of vitamin D over the counter, assessing the baseline level of serum vitamin D level prior to initiation of treatment and highlights the value of verifying additional dietary sources of vitamin D or oral supplements in patient's history.

17.
Oman Med J ; 37(1): e341, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35310823

RESUMO

Objectives: Diabetic ketoacidosis (DKA) is a life-threatening complication and a leading cause of hospitalization in patients with type 1 diabetes mellitus (T1DM). We aimed to assess the risk factors of admissions of children with DKA in a specialized children's hospital to reduce morbidity and inform appropriate prevention and intervention strategies. Methods: We conducted a retrospective review of all DKA admissions at King Abdullah Specialized Children's Hospital, Riyadh (March 2015-December 2017). Data were gathered from newly diagnosed patients with T1DM and known patients ≤ 14 years old with DKA criteria. The main variables were frequency, precipitating factors, and other characteristics of DKA admissions in both groups. Results: A total of 116/562 patients with T1DM (mean age 8.9±3.0 years) had 146 DKA episodes, of which 42/116 (36.2%) were newly diagnosed. The frequency of DKA admissions were 146/562 (26.0%), of which 42/141 (29.8%) were newly diagnosed versus 104/421 (24.7%) known T1DM patients. The majority were 10-14 years old (p ≤ 0.001), and 77.8% were females. Missing insulin was the main cause of DKA (p = 0.001) among known patients with T1DM. Recurrent episodes (n = 30/146, 20.5%) occurred in 15/116 patients and were more common in children ≥ 10 years of age (p = 0.024). The mean length of stay was 2.6±2.0 days and increased with DKA severity (p = 0.008). Conclusions: Most DKA episodes were in patients with known T1DM and missing insulin was the leading cause of DKA. In addition to awareness campaigns to prevent DKA as an initial presentation, intervention strategies should also target high-risk groups of known patients of T1DM such as adolescents and patients with recurrent episodes.

18.
Int J Pediatr Adolesc Med ; 9(4): 196-202, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36937326

RESUMO

Background: Post-operative pituitary insufficiency (PI) occurs in children with supra-tentorial tumors (STT) because of surgery or the mass effect of the tumor. We assessed the prevalence and clinical characteristics of STTs and predicted postoperative PI in our patients. Methods: This retrospective cohort study included children who underwent surgery for STT in two tertiary hospitals in Saudi Arabia (2009-2019). We focused on clinical, radiological, and histopathological features of STTs. We also used a linear regression model to predict post-operative PI. Results: The study included 55 children (1-18 years, mean: 9.5 ± 4.9 years, 32 [54%] females) with an initial presentation of STT that required surgery excluding recurrent episodes. The calculated period prevalence of STT was 18.2%, and the prevalence of postoperative PI was 58.2% (n = 32/55). The most common symptoms were headache and visual disturbances, and 20% patients had preoperative symptoms of PI. Baseline preoperative investigations for PI were performed in 60% of patients, and dynamic tests were conducted in only seven patients. A residual cortisol deficiency was presumed in 24 (43.7%) patients and 18 (32.7%) patients who developed central diabetes insipidus (DI) post-operatively. Overall, the brain imaging correlated well with the histopathological diagnosis (kappa = 0.48; P < .001). Craniopharyngioma (n = 15/55, 27.3%) was the commonest STT. Predictive factors for a postoperative residual PI included age (10.9 ± 4.8 years; p-value = .027), female gender (p-value = .016 [OR = 8.31; 95% CI (1.48-46.71)], presentation with headache (P value = .039 [OR = 9.27; 95% CI (1.12-76.72)]), and visual disturbances (p-value = .044 [OR = 5.07; 95% CI (1.04-24.61)]. Conclusion: STTs commonly occurred in our study population, and females were more prone to develop a residual PI. On-time surveillance of an intact endocrine system during the perioperative period is essential for the prediction and early management of PI.

19.
Sudan J Paediatr ; 22(2): 138-146, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36875945

RESUMO

This study aimed to assess parents' perceptions of the quality of life (QoL) of their children with type 1 diabetes (T1D) during Ramadan fasting (RF). In this cross-sectional study, an Arabic-translated version of the standard diabetes-specific QoL questionnaire (PedsQL™ version 3.0) was used to compare perceptions of QoL during Ramadan month (Rm) versus non-Rm (NRm) of parents of children/adolescents with T1D from two tertiary hospitals in Riyadh. We used regression analysis to compare proxies (parents' reports) of their perceptions on their children/adolescents' QoL during Rm compared to NRm. A sample of 61 proxies (parents') of two age groups T1D offspring: 8-12 years (41%) and 13-18 years (59%) who reported their perceptions of their children/adolescents QoL during Rm were matched by children/adolescents' age and gender of 61 proxies in NRm. QoL scores of all domains were significantly lower in Rm compared to NRm; p < 0.0001, however, worries domain showed no statistical differences p = 0.052 in a regression analysis. The total aggregate median (IQR) in Rm was 850 (612-1,062) compared to 1,750 (1,475-2,062) in NRm, p < 0.001. The highest differences in NRm and Rm median scores were observed in communications (OR = 3.64; 95% CI 2.7-5.57) and treatment adherence (OR = 3.09; 95% CI 2.48-3.84) domains especially in the age of 13-18 years. Parents of adolescent boys, who are usually risk-takers and more exposed to outdoor activities, perceived lower QoL for them. Parents of adolescents with T1D perceived a lower QoL for their children during RF, especially in the treatment adherence and communication domains.

20.
Clin Genet ; 100(5): 601-606, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34272725

RESUMO

In 2016 a new syndrome with postnatal short stature and low IGF1 bioavailability caused by biallelic loss-of-function mutations in the gene encoding the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) was described in two families. Here we report two siblings of a third family from Saudi Arabia with postnatal growth retardation and decreased IGF1 availability due to a new homozygous nonsense mutation (p.Glu886* in exon 7) in PAPPA2. The two affected males showed progressively severe short stature starting around 8 years of age, moderate microcephaly, decreased bone mineral density, and high circulating levels of total IGF1, IGFBP3, and the IGF acid-labile subunit (IGFALS), with decreased free IGF1 concentrations. Interestingly, circulating IGF2 and IGFBP5 were not increased. An increase in growth velocity and height was seen in the prepuberal patient in response to rhIGF1. These patients contribute to the confirmation of the clinical picture associated with PAPP-A2 deficiency and that the PAPPA2 gene should be studied in all patients with short stature with this characteristic phenotype. Hence, pediatric endocrinologists should measure circulating PAPP-A2 levels in the study of short stature as very low or undetectable levels of this protein can help to focus the diagnosis and treatment.


Assuntos
Nanismo/diagnóstico , Nanismo/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Fator de Crescimento Insulin-Like I/metabolismo , Fenótipo , Proteína Plasmática A Associada à Gravidez/deficiência , Adolescente , Biomarcadores , Nanismo/sangue , Família , Feminino , Estudos de Associação Genética/métodos , Humanos , Mutação com Perda de Função , Masculino , Radiografia , Arábia Saudita , Irmãos
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