International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach.

Disinhibited attachment behavior among infants of mothers with borderline personality disorder, depression, and no diagnosis.

Disinhibited attachment behavior is related to early institutional rearing and to later social maladaptation. It is also seen among infants reared at home whose mothers have histories of child maltreatment or psychiatric hospitalization. However, little is known about the maternal psychiatric diagnoses that might be associated with disinhibited behavior or the mechanisms through which maternal diagnosis might influence infant behavior.

Spectrum of complications in childhood Enteric Fever as reported in a Tertiary Care Hospital.

Objective: To find out frequency of various complications in children admitted with Enteric Fever at a tertiary care hospital.

Methods: This was prospective cross sectional study, carried out in the Pediatric Medicine department of The Children's Hospital Lahore from Dec 2014 to March 2017. Children of both genders with age range of 6 months to 16 years diagnosed as enteric fever on the basis of clinical features and positive Typhidot, or blood culture were included in the study.

Negative effects in psychotherapy: commentary and recommendations for future research and clinical practice.

Background: Psychotherapy can alleviate mental distress and improve quality of life, but little is known about its potential negative effects and how to determine their frequency.

Aims: To present a commentary on the current understanding and future research directions of negative effects in psychotherapy.

Method: An anonymous survey was distributed to a select group of researchers, using an analytical framework known as strengths, weaknesses, opportunities and threats.

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

The dynamic shape of the endoplasmic reticulum (ER) is a reflection of its wide variety of critical cell biological functions. Consequently, perturbation of ER-shaping proteins can cause a range of human phenotypes. Here, we describe three affected children (from two consanguineous families) who carry homozygous loss-of-function mutations in LNPK (previously known as KIAA1715); this gene encodes lunapark, which is proposed to serve as a curvature-stabilizing protein within tubular three-way junctions of the ER.

The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017.

This is the second report of the United Kingdom Primary Immunodeficiency (UKPID) registry. The registry will be a decade old in 2018 and, as of August 2017, had recruited 4758 patients encompassing 97% of immunology centres within the United Kingdom. This represents a doubling of recruitment into the registry since we reported on 2229 patients included in our first report of 2013.

Chemically Treated 3D Printed Polymer Scaffolds for Biomineral Formation.

We present the synthesis of nylon-12 scaffolds by 3D printing and demonstrate their versatility as matrices for cell growth, differentiation, and biomineral formation. We demonstrate that the porous nature of the printed parts makes them ideal for the direct incorporation of preformed nanomaterials or material precursors, leading to nanocomposites with very different properties and environments for cell growth. Additives such as those derived from sources such as tetraethyl orthosilicate applied at a low temperature promote successful cell growth, due partly to the high surface area of the porous matrix.

WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis.

Mutations in Wiskott-Aldrich syndrome protein (WASP) cause autoimmune sequelae including colitis. Yet, how WASP mediates mucosal homeostasis is not fully understood. Here we show that WASP-mediated regulation of anti-inflammatory macrophages is critical for mucosal homeostasis and immune tolerance.

Clinical Spectrum and Outcome of Cerebral Venous Sinus Thrombosis in Children.

Objective: To determine clinical spectrum, neuroimaging finding and outcome of cerebral venous sinus thrombosis (CVST) in children.

Study Design: Descriptive and cross-sectional study.

Place And Duration Of Study: Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, from 2015 to 2016.

High doses of Antisecretory Factor stop diarrhea fast without recurrence for six weeks post treatment.

Background: Diarrheal illnesses in young children cause morbidity and preventable deaths in developing countries. We evaluated two high doses of Salovum® [Antisecretory Factor] to treat diarrhea in young children and followed up for recurrence 6 weeks post treatment.

Methods: Forty children, 6-24 months old, admitted with acute diarrhea, to the Outpatient Department of Children's Hospital in Lahore, Pakistan were selected.

Electrocardiographic Manifestations In Paediatric Wilson Disease.

Background: Wilson disease (WD) is one of the most common metabolic liver diseases in older children. It has a strong genetic background with autosomal recessive inheritance. WD is a multisystem disorder with predominant hepatic and neurological manifestations and variable age of presentation.

Impact of maternal education, employment and family size on nutritional status of children.

Objective: To determine the impact of maternal education, employment, and family size on nutritional status of children.

Methods: It was case control study conducted at OPD of children Hospital Lahore, from September 2015 to April 2017. Total 340 children (170 cases and 170 controls) with age range of six months to five years along with their mothers were included.

Metabolic profile of children with extrahepatic portal vein obstruction undergoing meso-Rex bypass.

Background: Extrahepatic portal vein obstruction (EHPVO) in children is often associated with growth restriction, which improves after the restoration of portal venous flow with a meso-Rex bypass, but the physiologic mechanism is unknown. The purpose of this study was to investigate the mechanism of growth delay in children with EHPVO by detailing the metabolic and nutritional profile before and after meso-Rex bypass.

Methods: Twenty consecutive children with EHPVO were prospectively studied before and 1 year after meso-Rex bypass.

Descriptive epidemiology of metabolic syndrome among obese adolescent population.

Aims: The study was done to assess the magnitude of problems of metabolic syndrome among obese adolescents.

Materials And Method: It was a cross-sectional study done from January 2013 to June 2014 in paediatric endocrine outpatient department in BIRDEM General Hospital, Dhaka, Bangladesh. Total 172 adolescents having exogenous obesity aged 10-18 years were included.

Fucoidan Prolongs the Circulation Time of Dextran-Coated Iron Oxide Nanoparticles.

The magnetic properties and safety of dextran-coated superparamagnetic iron oxide nanoparticles (SPIONs) have facilitated their clinical use as MRI contrast agents and stimulated research on applications for SPIONs in particle imaging and magnetic hyperthermia. The wider clinical potential of SPIONs, however, has been limited by their rapid removal from circulation via the reticuloendothelial system (RES). We explored the possibility of extending SPION circulatory time using fucoidan, a seaweed-derived food supplement, to inhibit RES uptake.

Loss-of-function mutations in ADCY3 cause monogenic severe obesity.

Study of monogenic forms of obesity has demonstrated the pivotal role of the central leptin-melanocortin pathway in controlling energy balance, appetite and body weight . The majority of loss-of-function mutations (mostly recessive or co-dominant) have been identified in genes that are directly involved in leptin-melanocortin signaling. These genes, however, only explain obesity in <5% of cases, predominantly from outbred populations .

Demographics and Outome in Paediatric Non-Hodgkin Lymphoma: Single Centre Experience at The Children Hospital Lahore, Pakistan.

Objective: To describe the patient demographics and outcome analysis in paediatric non-Hodgkin lymphoma (NHL) patients.

Study Design: An observational study.

Place And Duration Of Study: The Hematology/Oncology Unit of The Children's Hospital and Institute of Child Health, Lahore, from January 2012 till December 2014.

Aflatoxin exposure in Nigerian children with severe acute malnutrition.

Aflatoxin exposure is an important public health concern in sub-Saharan Africa as well as parts of Latin America and Asia. In addition to hepatocellular carcinoma, chronic aflatoxin exposure is believed to play a role in childhood growth impairment. The most reliable biomarker of chronic aflatoxin exposure is the aflatoxin-albumin adduct, as measured by ELISA or isotope dilution mass spectrometry (IDMS).

Current and future antenatal management of isolated congenital diaphragmatic hernia.

Congenital diaphragmatic hernia is surgically correctable, yet the poor lung development determines mortality and morbidity. In isolated cases the outcome may be predicted prenatally by medical imaging. Cases with a poor prognosis could be treated before birth.

Outcomes of Esophageal Replacement: Gastric Pull-Up and Colonic Interposition Procedures.

Aim:  No consensus exists about the optimal surgical technique for esophageal replacement. This study reports the surgical outcomes for the gastric pull-up and the colonic interposition procedures.

Materials And Methods:  A retrospective review of children undergoing esophageal replacement surgery between January 2001 and June 2015 across four different pediatric surgery centers was conducted.

Burr Hole Aspiration of Brain Abscess in Children with Cyanotic Heart Disease.

Objective: To determine the efficacy of burr hole aspiration of brain abscess in children with cyanotic heart disease in terms of number of aspirations and residual abscess.

Study Design: Experimental study.

Place And Duration Of Study: Department of Pediatric Neurosurgery at The Children's Hospital and The Institute of Child Health, Multan, from July 2010 to June 2014.

Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities.

Background: Non-infectious causes of chronic diarrhoea are important and easily missed. The study was done with the objectives to identify different causes of chronic non-infectious diarrhoea in infants less than 6 months of age.

Methods: All patients less than 6 months of age presenting for the first time to a Paediatric Gastroenterology tertiary care centre with a history of chronic diarrhoea and negative stool cultures were enrolled over a period of 8 months.

Comparing the effectiveness of Betamethasone Gel with Lidocaine Gel local application on endotracheal tube in preventing post-operative sore throat (POST).

Objective: To see whether betamethasone gel or lidocaine gel is superior in reducing the incidence of post-operative sore throat after tracheal extubation.

Methods: This clinical study was conducted at the Nishtar Hospital and Medical College, Multan, Pakistan, from July to December 2015, and comprised patients who were set to undergo elective surgery under general anaesthesia. The patients were divided into two equal groups.