The genesis of paediatric haematology in the UK.

Paediatric haematology began to establish itself as a speciality in the UK just over 60 years ago. In that time, clinical trials involving all the specialist centres in the country, and based on scientific advances, have dramatically improved the outlook for children with a range of malignant and non-malignant disorders, but particularly acute leukaemia. As in many specialties, multidisciplinary teams have played a major role in delivering these advances.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Background: Pathogenic variants of encoding the β subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularly severe bradycardia.

Methods: We used echocardiography and telemetric ECG recordings to investigate consequences of loss in mouse.

Results: We delineated a key role of in heart sinus conduction and showed that -inhibitory signalling is essential for parasympathetic control of heart rate (HR) and maintenance of the sympathovagal balance.

Exposure to variable doses of nickel oxide nanoparticles disturbs serum biochemical parameters and oxidative stress biomarkers from vital organs of albino mice in a sex-specific manner.

Introduction: This study was designed to report the biological effect of nickel oxide nanoparticles (NiO NPs) in albino mice.

Material And Methods: Five weeks old albino mice of both sex were intraperitoneally injected either with 20 mg (low dose) or 50 mg/mL saline/kg body weight (high dose) of NiO NPs for 14 days. Saline-treated controls were maintained in parallel.

Infection Prevention and Control Measures at the Children Hospital Lahore: A My Child Matters Collaborative Project.

Purpose: Infection prevention among children with cancer is a major challenge at Children Hospital Lahore (CHL), a public health care facility in Pakistan with 1,000 new pediatric cancer admissions annually. The objective has been to reduce infections through collaboration between CHL and the St Jude Children's Hospital Global Infectious Disease program via a grant by the Sanofi Espoir foundation through the My Child Matters program. The aim of the current study was to describe the effect of the collaborative improvement strategy on existing infection prevention and control (IPC) standards at CHL.

Physicians' Attitudes Towards Treating Patients in the Context of COVID-19 Pandemic in Pakistan.

Background and objectives Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been the cause of a worldwide outbreak of respiratory illness, which has been declared as coronavirus disease 2019 (COVID-19) pandemic by the World Health Organization (WHO). The outbreak has posed a huge challenge to countries around the world and has resulted in a global lockdown. The pandemic has especially overburdened the healthcare sector, resulting in a shortage of personnel and equipment.

Complementary feeding practices among mothers of children aged six months to two years at Children's hospital Lahore.

Objective: To analyse complimentary feeding practices among mothers of infants.

Methods: The cross-sectional study was conducted from September to December, 2015, at The Children's Hospital, Lahore, Pkistan, and comprised children aged 6-24 months. Data was collected regarding demographic profile, breast-feeding, initiation and adequacy of complementary feeding, maternal education and father's monthly income.

Abnormal placental CD8 T-cell infiltration is a feature of fetal growth restriction and pre-eclampsia.

Key Points: Placental pathological abnormalities are more frequently observed in complicated pregnancies than in healthy pregnancies. Infiltration of CD8 T-cells into the placental villous tissue occurred in both fetal growth restriction and pre-eclampsia, whereas CD79α B-cell infiltration was only apparent with reduced fetal growth. Vascularization, fibrin depositions, macrophage and neutrophil infiltration in the placenta did not differ between healthy and complicated pregnancies.

Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study.

Long-chain fatty acid oxidation disorders (LC-FAOD) are autosomal recessive conditions that impair conversion of long-chain fatty acids into energy, leading to significant clinical symptoms. Triheptanoin is a highly purified, 7-carbon chain triglyceride approved in the United States as a source of calories and fatty acids for treatment of pediatric and adult patients with molecularly confirmed LC-FAOD. CL202 is an open-label, long-term extension study evaluating triheptanoin (Dojolvi) safety and efficacy in patients with LC-FAOD.

Identification of significant risks in pediatric acute lymphoblastic leukemia (ALL) through machine learning (ML) approach.

Pediatric acute lymphoblastic leukemia (ALL) through machine learning (ML) technique was analyzed to determine the significance of clinical and phenotypic variables as well as environmental conditions that can identify the underlying causes of child ALL. Fifty pediatric patients (n = 50) included who were diagnosed with acute lymphoblastic leukemia (ALL) according to the inclusion and exclusion criteria. Clinical variables comprised of the blood biochemistry (CBC, LFTs, RFTs) results, and distribution of type of ALL, i.

Identifying research obstacles; a cross sectional comparative study of perceptions of postgraduate medical and dental residents in three public sector medical colleges.

Objective: To explore the attitude of postgraduate medical and dental residents about research work and to identify barriers in the way of research activities.

Methodology: The cross-sectional study was conducted from May to July, 2018, at three public-sector medical and dental institutions in Quetta, the capital of Pakistan province of Balochistan, and comprised postgraduate residents. Data was collected using a pre-validated 16 item Likert scale questionnaire.

Naturally Occurring Stable Calcium Isotope Ratios in Body Compartments Provide a Novel Biomarker of Bone Mineral Balance in Children and Young Adults.

Serum calcium (Ca), bone biomarkers, and radiological imaging do not allow accurate evaluation of bone mineral balance (BMB), a key determinant of bone mineral density (BMD) and fracture risk. We studied naturally occurring stable (non-radioactive) Ca isotopes in different body pools as a potential biomarker of BMB. Ca and Ca are absorbed from our diet and sequestered into different body compartments following kinetic principles of isotope fractionation; isotopically light Ca is preferentially incorporated into bone, whereas heavier Ca preferentially remains in blood and is excreted in urine and feces.

Delivery of a nutritional prescription by enteral tube feeding in children with chronic kidney disease stages 2-5 and on dialysis-clinical practice recommendations from the Pediatric Renal Nutrition Taskforce.

The nutritional prescription (whether in the form of food or liquid formulas) may be taken orally when a child has the capacity for spontaneous intake by mouth, but may need to be administered partially or completely by nasogastric tube or gastrostomy device ("enteral tube feeding"). The relative use of each of these methods varies both within and between countries. The Pediatric Renal Nutrition Taskforce (PRNT), an international team of pediatric renal dietitians and pediatric nephrologists, has developed clinical practice recommendations (CPRs) based on evidence where available, or on the expert opinion of the Taskforce members, using a Delphi process to seek consensus from the wider community of experts in the field.

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene.

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.

Introduction: Glanzmann thrombasthenia (GT) is most common of inherited platelet disorders, resulting from quantitative/qualitative defects in platelet surface integrin αIIbβ3, encoded by ITGA2B and ITGB3 genes. Little is known about clinical and molecular characteristics of GT patients from highly consanguineous Pakistani population.

Methods: This study analyzed the clinical and molecular spectrum of six GT patients from four unrelated but consanguineous families.

Faecal calprotectin levels during the first year of life in healthy children.

Aim: A high faecal calprotectin (FC) level is a non-invasive marker for inflammatory bowel disease. Nevertheless, healthy infants have elevated levels of FC with large variations. The aim of our study was to determine the levels of FC and associated factors in healthy infants aged 0-12 months.

Rusty Pipe Syndrome and Review of Literature.

Presence of blood in colostrum may change the color of breast milk and it is known as "rusty pipe syndrome." It may resolve within days, but it may be a barrier for exclusive breastfeeding. Knowledge of "rusty pipe syndrome" among health professionals is very helpful in the management of breastfeeding initiation.

Efficacy Of Intralesional Bleomycin Injection Sclerotherapy In Macrocystic Lymphangioma In Paediatric Patients.

Background: This study is aimed to assess the efficacy of intralesional Bleomycin sclerotherapy in macrocystic lymphangioma in children.

Methods: This prospective observational study included 40 children diagnosed with macrocystic lymphangioma and treated with intralesional injection of Bleomycin from March 2016 to Dec 2018. We excluded all the patients above 12 years of age, lesions with size less than 2 cm, and post-surgical recurrent lesions.

Comparison of Ureteroscopic Pneumatic Lithotripsy and Extracorporeal Shock Wave Lithotripsy for Proximal Ureteral Calculi.

Objective The goal of this study was to compare the effectiveness and complications of ureteroscopic pneumatic lithotripsy (URS) and extracorporeal shock wave lithotripsy (SWL) in the management of patients with proximal ureteral stones. Methods In this trial, 150 patients presenting with proximal ureteral stones at the Department of Urology of Nishter Hospital Multan from November 2018 to November 2019 were allocated 1:1 to undergo URS or SWL. The presence of stone fragments <4 mm on follow-up was regarded as being stone free.

Rapid response in the COVID-19 pandemic: a Delphi study from the European Pediatric Dialysis Working Group.

Background: COVID-19 was declared a global health emergency. Since children are less than 1% of reported cases, there is limited information to develop evidence-based practice recommendations. The objective of this study was to rapidly gather expert knowledge and experience to guide the care of children with chronic kidney disease during the COVID-19 pandemic.

Haemobilia: secondary to micro aneurysms of hepatic artery.

Hepatic artery is the fourth most common site of the intraabdominal aneurysm, after infra renal aorta, iliac artery and splenic artery aneurysms. Rupture of the aneurysm may lead to the upper gastrointestinal haemorrhage. Here we report a 5 years old boy, who presented with fever, abdominal distension and unexplained upper GI bleed.

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.

Background: Neuronal ceroid lipofuscinosis (NCL) is a hereditary lysosomal storage disease with progressive brain neurodegeneration. Mutations in ceroid lipofuscinosis neuronal protein 5 (CLN5) cause CLN5 disease, a severe condition characterized by seizures, visual failure, motor decline, and progressive cognitive deterioration. This study aimed to identify causative gene variants in Pakistani consanguineous families diagnosed with NCL.

Discontinuation of RAAS Inhibition in Children with Advanced CKD.

Background And Objectives: Although renin-angiotensin-aldosterone system inhibition (RAASi) is a cornerstone in the treatment of children with CKD, it is sometimes discontinued when kidney function declines. We studied the reasons of RAASi discontinuation and associations between RAASi discontinuation and important risk markers of CKD progression and on eGFR decline in the Cardiovascular Comorbidity in Children with CKD study.

Design, Setting, Participants, & Measurements: In this study, 69 children with CKD (67% male, mean age 13.