Naglaa M Kamal

UNLABELLED: Background & Aim of the Work: β-Thalassemia (βT) is highly prevalent in some countries like Egypt. Accurate data about actual disease prevalence and heavily prevalent geographic locations are essential to help in early detection and in setting up effective preventive programs. We aim for screening βT carriers among Egyptian high school students in the Delta region.

SUBJECTS AND METHODS: A cross-sectional multicenter study was carried out on 4320 randomly selected students from four governorates of the Nile Delta region, Egypt. All patients were to be tested for their complete blood count. Those with microcytic hypochromic anemia not caused by iron deficiency were tested for βT carrier status using high-performance liquid chromatography.

RESULTS: The total prevalence of βT carrier rate was 6.13%. The highest prevalence was detected in Al-Sharkia Governorate, reaching 7.89%, followed by 6.90% in Al-Gharbia Governorate. Al- Dakahilia and Al-Menoufia showed lower rates of 4.86% and 3.73%, respectively.

CONCLUSION: Despite the premarital national screening program for βT in Egypt, the carrier rate is still high. More effort should be done into the proper implementation of national prevention programs.

UNLABELLED: Background & Aim of the Work: β-Thalassemia (βT) is highly prevalent in some countries like Egypt. Accurate data about actual disease prevalence and heavily prevalent geographic locations are essential to help in early detection and in setting up effective preventive programs. We aim for screening βT carriers among Egyptian high school students in the Delta region.

SUBJECTS AND METHODS: A cross-sectional multicenter study was carried out on 4320 randomly selected students from four governorates of the Nile Delta region, Egypt. All patients were to be tested for their complete blood count. Those with microcytic hypochromic anemia not caused by iron deficiency were tested for βT carrier status using high-performance liquid chromatography.

RESULTS: The total prevalence of βT carrier rate was 6.13%. The highest prevalence was detected in Al-Sharkia Governorate, reaching 7.89%, followed by 6.90% in Al-Gharbia Governorate. Al- Dakahilia and Al-Menoufia showed lower rates of 4.86% and 3.73%, respectively.

CONCLUSION: Despite the premarital national screening program for βT in Egypt, the carrier rate is still high. More effort should be done into the proper implementation of national prevention programs.

UNLABELLED: Background & Aim of the Work: β-Thalassemia (βT) is highly prevalent in some countries like Egypt. Accurate data about actual disease prevalence and heavily prevalent geographic locations are essential to help in early detection and in setting up effective preventive programs. We aim for screening βT carriers among Egyptian high school students in the Delta region.

SUBJECTS AND METHODS: A cross-sectional multicenter study was carried out on 4320 randomly selected students from four governorates of the Nile Delta region, Egypt. All patients were to be tested for their complete blood count. Those with microcytic hypochromic anemia not caused by iron deficiency were tested for βT carrier status using high-performance liquid chromatography.

RESULTS: The total prevalence of βT carrier rate was 6.13%. The highest prevalence was detected in Al-Sharkia Governorate, reaching 7.89%, followed by 6.90% in Al-Gharbia Governorate. Al- Dakahilia and Al-Menoufia showed lower rates of 4.86% and 3.73%, respectively.

CONCLUSION: Despite the premarital national screening program for βT in Egypt, the carrier rate is still high. More effort should be done into the proper implementation of national prevention programs.

Even though congenital heart disease is a common finding in down syndrome (DS) patients, some of them have anatomically normal hearts. However, the term "normal" might not be suitable, as these patients usually suffer from functional cardiac dysfunction. Several research highlighted that despite the absence of anatomical heart defects, subtle cardiac function derangements are present in DS patients. We aim to assess cardiac functions by Two-dimensional echocardiography and tissue Doppler imaging (TDI) in pediatric DS patients who have anatomically normal hearts. One hundred seventy-two patients with karyotyping confirmed DS with anatomically normal hearts and 165 healthy normal control children were enrolled in the current study. Their cardiac functions were assessed using both 2-dimensional echocardiography and TDI. Both patients and controls had structurally and anatomically normal hearts. In DS patients, the right side of the heart showed a significant reduction in both systolic and diastolic functions. Systolic dysfunction was evident by significantly decreased levels of Tricuspid annular plane systolic excursion and systolic wave by TDI. Diastolic dysfunction of the right ventricle was evident by prolonged deceleration time by conventional echocardiography and a significant decrease in annular tissue doppler velocity during early diastole/late diastole ratio by TDI. The E/De ratio was significantly increased. Even with anatomically normal hearts, DS patients should undergo cardiac function assessment by echocardiography & TDI. TDI is superior to conventional echocardiography in detecting subtle cardiac dysfunction especially left ventricular diastolic dysfunction in DS patients. TDI showed a significant decrease in the early/atrial ratio of mitral valve annulus and prolongation of left ventricle isometric relaxation time in DS children. Also, the left ventricle E/De ratio was prolonged denoting elevated filling pressures and diastolic dysfunction. This indicates that the TDI has higher sensitivity to detect diastolic dysfunction than conventional Echocardiography. Biventricular TDI-derived myocardial performance index was found to be significantly increased in DS children.

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.745-1G>C p. in StAR gene.

BACKGROUND: Myelin oligodendrocyte glycoprotein antibody (MOGA) associated diseases are inflammatory immune-mediated demyelinating disorders with relapse potential involving the central nervous system. Multiple unusual clinical manifestations of those disorders were reported, making treatment decisions difficult.

CASE PRESENTATION: A healthy 12-year-old obese boy presented with headache and bilateral asymmetric papilledema. The patient had a negative medical history. His neurological and general examinations were unremarkable, his initial magnetic resonance imaging showed elevated intracranial pressure (ICP) only. A lumbar puncture revealed increased opening pressure and pleocytosis. The MOGA titer was 1:320. He needed acetazolamide and steroid therapy. After 2 months of medication, weight loss, exercise, the patient symptoms significantly improved, papilledema resolved, and visual function improved.

CONCLUSION: MOGA-associated disorders have a variety of clinical features, so a high index of suspicion is required for their diagnosis. Papilledema and an elevated ICP are 2 of the chameleons of MOGA-associated disorders. MOGA test may be useful in patients with elevated ICP and inflammatory cerebrospinal fluid profiles. An investigation of the possible association between those disorders and high ICP is warranted.

. To evaluate carotid artery intima-media thickness (CIMT) and lipid profile in children with epilepsy on long-term antiepileptic drug (AED) monotherapy. . We included 60 children with epilepsy receiving valproate, carbamazepine, or levetiracetam monotherapy and 60 controls. A high-resolution B-mode ultrasound was used to measure (CIMT). Measurement of serum lipids was done. . Patients on valproate (0.44 ± 0.03,  ≤ .001), carbamazepine (0.43 ± 0.03with  ≤ .001), and levetiracetam (0.44 ± 0.02 with  ≤ .001) monotherapy showed significantly higher CIMT compared to controls. CIMT was correlated with age ( = .041,  = .112) AEDs{valproate ( = .005,  = .731), carbamazepine ( = .038,  = .365), and levetiracetam ( = .036,  = .155)}, duration of treatment ( = .001,  = .313), TC( = .001,  = .192), TG ( = .014,  = .018), and LDL ( = .001,  = .219). HDL ( = .003,  = -.126). Seizure severity and Apo A1 were insignificantly involved. . Long-term monotherapy with valproate, carbamazepine, and levetiracetam in epileptic children was associated with significant abnormalities in CIMT.

INTRODUCTION: In children, idiopathic intracranial hypertension (IIH) is relatively uncommon. It is characterized by an increase in intracranial pressure, in the absence of evidence of underlying brain disease, structural abnormalities, hydrocephalus, or abnormal meningeal improvement. However, very rarely it can occur without papilledema, even though it is the most recognizable clinical sign. Due to this, a delay in diagnosis can lead to severe visual impairments.

CASE PRESENTATION: We describe a patient with a chronic headache but no papilledema. His neurological and systemic examinations were otherwise unremarkable. A lumbar puncture revealed a high opening pressure of 450 mmHO and normal cerebrospinal fluid (CSF) parameters. Magnetic resonance imaging of the brain revealed only tortuous optic nerves, no parenchymal lesions, and no evidence of venous sinus thrombosis. He required acetazolamide treatment. Our patient's symptoms improved significantly in 2 months with medical treatment, weight loss, and exercise, with no development of papilledema.

CONCLUSION: There is a wide range of clinical manifestations of IIH, making it difficult to decide when to begin treatment.

Vertebral artery aneurysm is a rare condition with diverse clinical manifestations in pediatric patients. We present the case of a 12-year-old male who presented with diplopia, vomiting, ataxia, and severe headache. Diagnostic evaluation revealed an extracranial vertebral artery dissection with an associated aneurysm at the C3-C4 level. Despite the absence of recurrent ischemic strokes, the aneurysm posed challenges in differentiating the symptoms from other inflammatory demyelinating disorders, particularly internuclear ophthalmoplegia. Diagnosis relied on a thorough history, physical examination, and imaging studies. Magnetic resonance imaging with magnetic resonance angiography confirmed the diagnosis and played a crucial role in assessing the size, location, and extent of the aneurysm. Additionally, the imaging findings helped guide treatment decisions and determine the need for anticoagulation therapy. Regular follow-up imaging was initiated to monitor for late complications and evaluate the effectiveness of the management approach. This case highlights the atypical presentation of vertebral artery aneurysm in a pediatric patient, underscoring the importance of clinical suspicion and the role of advanced imaging techniques in facilitating accurate diagnosis and guiding appropriate management. Prompt diagnosis and optimal utilization of imaging modalities are essential in preventing severe morbidity and mortality. Further research is warranted to enhance our understanding of this condition and refine imaging and management protocols in pediatric population.

Long-term glucocorticoids administration inhibits bone mineralization and has a negative impact on basic cellular mechanisms that are critical in the development and maintenance of bone strength. Steroids can cause osteoporosis in children and have a negative impact on bone mineral content (BMC) and bone mineral density (BMD). We aim to determine the BMD of children with idiopathic nephrotic syndrome (INS) who are on corticosteroids therapy. This cross-sectional study included 90 patients on corticosteroids therapy and 50 apparently healthy age and sex-matched children served as a control group. Renal functions, bone biochemistry, and parathyroid hormone (PTH) were measured in patients and controls. BMD was measured at the lumbar spinal region (L2-L4) using Dual-energy X-ray absorptiometry (DEXA) scan in both patients and controls groups. Serum PTH, phosphorous, and alkaline phosphatase levels were significantly higher in patients than in controls. There was a statistically significant reduction in blood calcium levels in patients compared to controls. Osteopenia was diagnosed by DEXA scan in 24 patients (26.7%) and osteoporosis in 12 patients (13.3 %). There was a statistically significant decline in BMD-z score, BMD, and BMC in patients compared to the healthy group. Patients with INS on corticosteroids treatment have a lower BMD than their peers. Pediatric INS patients had a high prevalence of osteopenia and osteoporosis as measured by DEXA. Steroid therapy has a deleterious impact on bone mineralization in children with INS.

Dubin-Johnson syndrome (DJS) is an often-missed diagnosis of neonatal cholestasis. We report two patients with DJS, who presented with neonatal cholestasis. The first patient underwent extensive investigations for infantile cholestasis with no definitive etiology reached; the diagnosis of DJS was missed until the age of 14 years old. The diagnosis was confirmed genetically with c.2273G > T, p.G758V mutation in exon 18 of the ABCC2 gene. The 2nd patient is a 7-day-old baby, the son of the 1st patient who gave birth to him at the age of 21 years old. He was diagnosed with DJS at the age of 2 weeks based on normal clinical and laboratory workup apart from direct hyperbilirubinemia. He had the same mutation as his mother in homozygous status. The husband was heterozygous for the same mutation. DJS is one of the often-missed differential diagnoses of neonatal cholestasis. It should be suspected in patients of infantile cholestasis, who have an, otherwise, normal physical examination, and laboratory investigations to avoid unnecessary lengthy, invasive, and expensive workups.

Acute lymphoblastic leukemia is the most common malignancy in children. In children, venous thromboembolism is relatively common. In most cases, venous thromboembolism manifests in patients who are diagnosed with acute lymphoblastic leukemia. Several risk factors associated with acute lymphoblastic leukemia predispose patients to the development of venous thromboembolism. Unlike most reported cases of venous thromboembolism, herein we report a child who developed cerebral venous sinus thrombosis prior to the diagnosis of acute lymphoblastic leukemia. The patient recovered from an attack of acute gastroenteritis with sepsis, pancytopenia, and disseminated intravascular coagulation 2 weeks before the development of thrombosis. Her laboratory workup for coagulopathy and disseminated intravascular coagulation was normal at the time of diagnosis of cerebral sinus thrombosis. The genetic workup for thrombophilia risk identified several genetic thrombophilia mutations: the homozygous factor XIII V34L and MTHFR A1298C mutations and heterozygous factor V Leiden mutation. Three weeks later, the patient was diagnosed with acute lymphoblastic leukemia. However, it remains questionable whether the thrombotic event was caused by the previous infection of gastroenteritis, sepsis, and disseminated intravascular coagulation picture (which was augmented by her genetic thrombophilia risk), or was it caused by acute lymphoblastic leukemia (that was not detected at early stages with its associated hypercoagulable state), or was it caused by a type of paraneoplastic syndrome. A multifactorial etiology is proposed.

OBJECTIVES: We aimed to evaluate the use of intravenous levetiracetam as the first-line treatment of neonatal seizures compared with phenobarbital.

METHODS: The study was conducted on 104 neonates (0-28 days) with clinical seizures after inclusion criteria. They were assigned in equal ratio into 2 groups; 1 included neonates who received phenobarbitone, and the other included neonates who received levetiracetam. Neonates were loaded with 20 mg/kg of intravenous drug-A (phenobarbitone) or drug-B (levetiracetam). In persistent seizures, a second loading dose of the same drug was given. Crossover to other drugs occurred if seizures persisted after the second dose of the same drug. The proportion of neonates who achieved cessation of seizures following the first or second loading dose of either drug-A or drug-B (PB or LEV) was the main outcome measure provided that they remained free of seizure for the following 24 hours.

RESULTS: After 1 or 2 doses of Levetiracatam or Phenobarbitone, clinical seizures stopped (and remained seizure-free for 24 hours) in 41 (78.84%) and 34 (65.38%) patients, respectively ( = .01). Neonates in the LEV group showed better seizure control than neonates in the PB group (RR = 0.57; 95% CI (0.17, 0.80). We did not report any adverse drug reactions in the LEV group. However, 12 (23.07%) neonates developed adverse drug reactions in the PB Group.

CONCLUSION: Levetiracetam is considered an effective and safe drug as a first-line AED in neonatal seizures.

Introduction: Facial asymmetry during crying in neonates is an important entity which might be due to an underlying true paralysis of the facial nerve or due to the benign overlooked diagnosis of congenital absence of the depressor angularis oris muscle (DAOM).

Case Report: We report a full-term newborn delivered by normal spontaneous vertex delivery with uneventful pregnancy and Apgar score of 9 and 10 at 1 and 5 minutes respectively. His parents are first-degree cousins with 4 living normal siblings. His birth weight was appropriate for his gestational age. His initial neonatal assessment was normal apart from facial asymmetry during crying in the form of deviation of the angle of the mouth to the left with an otherwise normal facial appearance. The facial asymmetry disappears at rest (without crying). This condition usually poses a diagnostic dilemma. Developmental and traumatic facial paralysis and being part of some syndromes like Mobius and CHARGE syndromes are among the most important differential diagnosis but the disappearance of the facial asymmetry at rest is diagnostic of absent DAOM which is a relatively common but missed diagnosis.

Conclusions: Pediatricians should be aware about the diagnosis of DAOM in neonates with asymmetric crying face if the face was completely normal at rest with deviation of the angle of the mouth on crying which disappears on rest.

BACKGROUND: Myogenic Arthrogryposis Multiplex Congenita type 3 (AMC-3), is a rare congenital condition characterized by severe hypotonia, club feet, and multiple joint contractures often affecting both arms and legs which start prior to birth.

CASE PRESENTATION: We report a full-term neonate born to first-degree cousins from fourth-generation consanguineous families, who had with antenatal history of reduced fetal movements. At birth, he was noticed to have bilateral club feet, arthrogryposis, severe hypotonia, and absent deep tendon reflexes. The patient developed difficulty in breathing probably attributed to his generalized severe hypotonia, necessitating mechanical ventilation. His creatinine-phospho-kinase, electromyogram, and brain magnetic resonance imaging were normal. Whole-exome sequencing (WES) was requested for the genetic diagnosis of the case. WES identified a novel homozygous variant c.23415-3799C > G p. in the synaptic nuclear envelope protein1 [SYNE1] gene. Seven out of 20 bioinformatic in silico programs predicted a pathogenic effect for this variant. Segregation analysis of the variant in the parents and siblings revealed that both parents and one sibling were heterozygous for the same mutation which proved the variant significance and its autosomal recessive pattern of inheritance.

CONCLUSIONS: AMC3 should be suspected in patients with decreased fetal movements, severe hypotonia, absent deep tendon reflexes, and arthrogryposis. SYNE1 gene mutations can be the underlying genetic defect and molecular genetic testing can prove the diagnosis.

Interleukin-2 receptor alpha () defect (OMIM- # 606367) is an immune disease where affected patients are vulnerable to developing recurrent microbial infections in addition to lymphadenopathy and dermatological manifestations. This condition is known to be caused by pathogenic variants in the gene, which are inherited in an autosomal recessive fashion. In this case report, we present a patient with defect from Saudi Arabia who presented with chronic diarrhea, poor weight gain, mild villous atrophy, malnutrition, hepatomegaly, nonspecific inflammation, and an eczematous skin rash. His genetic analysis revealed a novel, homozygous, and likely pathogenic variant, that is, c.504 C>A (Cys168Ter), located in the exon 4of the gene, which was inherited from his parents in an autosomal recessive mode of inheritance. This variant produces a 272-amino-acid shorter protein chain, which most likely becomes degraded in the cytosol. Thus, we assume that the c.504 C>A is a null allele that abolishes the synthesis of , malforms the IL-2 receptor complex, and eventually causes immunodeficiency manifestations. To our knowledge, this is the first time a person with defect has shown signs of granulomatous hepatitis on a liver biopsy.

We describe a case of IgA vasculitis without typical skin rash concomitated with c-ANCA positivity in a 6-year-old boy who presented with persistent severe generalized colicky abdominal pain, recurrent episodes of vomiting, non-pitting edema of both hands and feet, both knees and ankles arthritis with no associated skin rash following a history of an upper respiratory tract infection 2 weeks before presentation. Initially, he had normal laboratory findings apart from sub-nephrotic range proteinuria and microscopic hematuria in his urine analysis. Two weeks later, he started to have hypertension, gross hematuria, nephrotic range proteinuria, marked elevation of serum urea and creatinine associated with positive serum C-ANCA. Renal biopsy revealed heavy IgA mesangial deposition with marked crescent formation involving more than 89% of the glomeruli (grade V). Aggressive therapeutic measures were initiated including IV pulsed steroid therapy and IV pulsed cyclophosphamide for 5 cycles followed by oral steroid and mycophenolate with close monitoring of the patient who showed marked improvement. Up to our knowledge, this is the first reported case of IgA-vasculitis-associated nephritis with bowel angina symptoms, arthritis, and edema but without typical skin rashes.

There is still a need for more studies to evaluate the role of vitamin D in pediatric migraine prophylaxis. We aimed to evaluate the effects and safety of vitamin D supplementation to topiramate on pediatric migraine. A double-blinded prospective clinical trial was conducted on 5- to 14-year-old children with migraine. They were randomly assigned in a 1:1 ratio into 2 groups, one with vitamin D supplementation (the supplementation group) and the other without vitamin D supplementation (the placebo group). The supplementation group received topiramate plus one 5000-IU dose of vitamin D daily for 4 months. The placebo group received topiramate with a placebo capsule without any effective substances. The primary outcomes were a monthly frequency of headache attacks, a good response to intervention, and reduction in migraine severity, duration, and disability before and after treatment. Fifty-six children completed the trial. Vitamin D supplementation to topiramate was more effective than the placebo group in the reduction of monthly frequency (6231.31 vs 9792.24 times,  = .01) and disability score for migraines (17 566.43 vs 25 187.65,  = .04). A good response was observed in 76.13% of patients in the vitamin D supplementation group and 53.5% of patients in the placebo group, and vitamin D supplementation was significantly more effective than placebo ( = .01). Side effects were observed in 13.3% and 20% of the intervention group and placebo groups, respectively,  = .5. Vitamin D supplementation in pediatric migraine prophylaxis could be a well-tolerated, safe, and effective strategy.

INTRODUCTION: Salivary gland tumors are uncommon in children; hemangiomas are one of them. We report a case of infantile hemangioma of the parotid gland which posed a diagnostic dilemma.

PATIENTS AND METHODS: Four-month-old infant presented with swelling at the parotid gland region, which was progressively increasing. There was a diagnostic dilemma with initial misdiagnosis as acute parotitis. Imaging studies with ultrasonography and CT with contrast were requested.

RESULTS: Imaging studies revealed hyperintense lobulated mass suggestive of parotid hemangioma. Vascular consultation recommended conservative management with follow-up after 3 months. On follow-up, there was an increase in mass size, and propranolol was started. Swelling showed a good response on the next follow-up visit and is still on medical management.

CONCLUSION: Parotid hemangiomas frequently pose a diagnostic dilemma, but the typical noninflammatory nature of the swelling and radiological evaluation confirms the diagnosis.

Introduction: Congenital pancreatic lipase deficiency (MIM 614338) is a rare genetic disorder caused by homozygous mutation in the PNLIP gene. Few cases have been reported worldwide and among them, few cases were genetically confirmed.

Patients and methods: A 3-year-old girl presented with abundant greasy diarrhea started at the age of 2 years. Work up of steatorrhea including molecular testing of PNLIP gene in the patient and her family was done.

Results: A novel homozygous variant c.1257G > A (p. Trp419Ter) of the PNLIP gene was detected in the patient. Her parents and two siblings were carriers for the same mutation. Pancreatic enzyme therapy was introduced, and a multidisciplinary team was involved with the education for the need for the lifelong use of pancreatic enzymes, and genetic counseling was carried out. There was a great improvement of steatorrhea with pancreatic enzymes treatment.

Conclusions: PNLIP deficiency should be suspected in patients with steatorrhea who have low pancreatic lipase and an otherwise normal health and appropriate growth.

Introduction: For many years, congenital panhypopituitarism has been recognized to cause infantile cholestasis. However, the isolated cortisol deficiency as a cause of cholestasis and liver failure was rarely reported.

Case description: A 32-days old male infant presented to the hepatology clinic with infantile cholestasis. His initial workup revealed alanine transaminase (ALT) level of 138 U/L, aspartate transaminase level of 76 U/L, total bilirubin (T.Bil) of 103 mmol/L, direct bilirubin of (D.Bil) 83 mmol/L, gamma-glutamyl transpeptidase (GGT) level of 28 U/L with normal prothrombin time (PT) of 13 seconds. One week later, the patient developed severe bronchiolitis necessitating mechanical ventilation associated with acute liver failure and worsening cholestasis. His ALT increased to 303.5 U/L and direct bilirubin increased to 204 mmol/L with prolongation of PT to 18.9 seconds reflecting derangement in synthetic liver functions. There was associated hypoglycemia, hyponatremia and high normal potassium level with a picture of adrenal insufficiency. Hormonal workup and genetic testing revealed isolated cortisol deficiency with a novel homozygous mutation c.763_764delAT (p. Met255ValfsX17) in Melanocortin 2 receptor gene () and the patient was diagnosed as familial primary glucocorticoid deficiency. The patient was maintained on cortisol replacement therapy with the resolution of cholestasis and normalization of liver functions.

Conclusions: Patients presenting with infantile cholestasis associated with documented hypoglycemia should alert pediatricians about the possibility of familial glucocorticoid deficiency and prompt investigation of adrenal function should be considered. Cortisol replacement therapy leads to the resolution of cholestasis.

Hearing damage is one of the main toxic effects of platinum compounds, it derives from the irreversible degeneration of hair cells of the ear. Genetic association studies have suggested an association between GSTP1 c.313A>G variant and platinum-induced ototoxicity in childhood cancer survivors. We aimed to detect the frequency of ototoxicity and associated risk factors in survivors of childhood cancer receiving platinum-based chemotherapy and to detect the relation between GSTP1 c.313A>G (rs1695) polymorphisms and ototoxicity. We conducted a cross-sectional study on 64 cancer survivors who received platinum agents (cisplatin and/or carboplatin) at least 2 years after the end of chemotherapy. The patients underwent comprehensive audiological evaluations and genotyping to detect the presence of the GSTP1 c.313A>G polymorphisms. Hearing loss (HL) was identified in 16/64 patients (25%), including 62.5% treated with cisplatin and 37.5% treated with carboplatin. The greater incidence of ototoxicity was found in children treated for osteosarcoma (28.1%) followed by patients with germ cell tumors (25%) and neuroblastoma (21.9%). The AA, AG, and GG types of GSTP1 c.313A>G variant were detected in 84.4%, 9.4%, and 6.3%, respectively, of patients with HL with a significant association between mutant genotype of GSTP1 rs1695 and platinum-induced ototoxicity (P = .035). HL was not significantly associated with the total cumulative dose of cisplatin and carboplatin. GSTP1 c.313A>G variant may increase the risk of HL in pediatric oncology patients treated with cisplatin or carboplatin chemotherapy.

Although functional gastrointestinal disorders (FGIDs) are very common in pediatric patients, there is a scarcity of published epidemiologic data, characteristics, and management patterns from Saudi Arabia, which is the 2nd largest Arabic country in terms of area and the 6th largest Arabic country in terms of population, with 10% of its population aged <5 years. Functional constipation (FC) is an FGID that has shown a rising prevalence among Saudi infants and children in the last few years, which urges us to update our clinical practices. Nine pediatric consultants attended two advisory board meetings to discuss and address current challenges, provide solutions, and reach a Saudi national consensus for the management of pediatric constipation. The pediatric consultants agreed that pediatricians should pay attention to any alarming signs (red flags) found during history taking or physical examinations. They also agreed that the Rome IV criteria are the gold standard for the diagnosis of pediatric FC. Different therapeutic options are available for pediatric patients with FC. Dietary treatment is recommended for infants with constipation for up to six months of age. When non-pharmacological interventions fail to improve FC symptoms, pharmacological treatment with laxatives is indicated. First, the treatment is aimed at disimpaction to remove fecal masses. This is achieved by administering a high dose of oral polyethylene glycol (PEG) or lactulose for a few days. Subsequently, maintenance therapy with PEG should be initiated to prevent the re-accumulation of feces. In addition to PEG, several other options may be used, such as Mg-rich formulas or stimulant laxatives. However, rectal enemas and suppositories are usually reserved for cases that require acute pain relief. In contrast, infant formulas that contain prebiotics or probiotics have not been shown to be effective in infant constipation, while the use of partially hydrolyzed formula is inconclusive. These clinical practice recommendations are intended to be adopted by pediatricians and primary care physicians across Saudi Arabia.

ABSTRACT: A big problem is the delayed growth and sexual maturity in children with chronic kidney disease (CKD) with the consequent reduction in adults' height. Testosterone and estradiol have significant physiologic changes in children suffering from CKD, resulting in delayed puberty. We aim to assess blood levels of these hormones in patients with CKD-5 on regular hemodialysis.One hundred-six participants were enrolled in the current study, 56 of whom had CKD on hemodialysis 3 times a week 4 hours per session, and 60 healthy age- and gender-matched children acted as controls. Full history was taken, and a clinical review was performed on both patients and controls. The pubertal assessment was performed according to Tanner's classification and laboratory investigations of total and free serum (s.) testosterone in boys and s.estradiol in girls.Patients' weight and height were considerably lower than controls. The free and total s.testosterone of patients were significantly reduced. The same applies to s.estradiol levels which were substantially reduced in comparison to controls. In both patients and controls, Tanner staging & male total s.testosterone levels and female s.estradiol levels had significant positive associations. There was a negative association between the sex hormones levels and the disease's and dialysis duration in the patients' group.S.testosterone and s.estradiol levels were significantly low in CKD patients on dialysis and were positively correlated with delayed pubertal growth observed in those patients.