Pediatrics Commons^™

Mental Health Of Children And Adolescents Amidst Covid-19 And Past Pandemics: A Rapid Systematic Review, Salima Meherali, Neelam Punjani, Samantha Louie-Poon, Komal Abdul Rahim, Jai K. Das, Rehana A. Salam, Zohra S. Lassi

School of Nursing & Midwifery

Background: The COVID‑19 pandemic and associated public health measures have disrupted the lives of people around the world. It is already evident that the direct and indirect psychological and social effects of the COVID‑19 pandemic are insidious and affect the mental health of young children and adolescents now and will in the future. The aim and objectives of this knowledge-synthesis study were to identify the impact of the pandemic on children's and adolescent's mental health and to evaluate the effectiveness of different interventions employed during previous and the current pandemic to promote children's and adolescents' mental health.
Methodology: We conducted …

Serial Lung Ultrasounds In Pediatric Pneumonia In Mozambique And Pakistan, Amy Sarah Ginsburg, Muhammad Imran Nisar, Lola Madrid, Jennifer L. Lenahan, Benazir Baloch, Pio Vitorino, Jun Hwang, Alessandro Lamort, Nee Kanth, Fyezah Jehan

Department of Paediatrics and Child Health

Lung ultrasound (LUS) is a promising point-of-care imaging technology for diagnosing and managing pneumonia. We sought to explore serial LUS examinations in children with chest-indrawing pneumonia in resource-constrained settings and compare their clinical and LUS imaging courses longitudinally. We conducted a prospective, observational study among children aged 2 through 23 months with World Health Organization Integrated Management of Childhood Illness chest-indrawing pneumonia and among children without fast breathing, chest indrawing or fever (no pneumonia cohort) at 2 district hospitals in Mozambique and Pakistan. We assessed serial LUS at enrollment, 2, 6, and 14 days, and performed a secondary analysis of …

Serial Population-Based Serosurveys For Covid-19 In Two Neighbourhoods Of Karachi, Pakistan, Muhammad Imran Nisar, Nadia Ansari, Farah Khalid, Mashal Amin, Hamna Shahbaz, Aneeta Hotwani, Najeeb Rehman, Usma Mehmood, Arjumand Rizvi, Junaid Iqbal, Ali Faisal Saleem, Fyezah Jehan

Department of Paediatrics and Child Health

Objective: To determine population-based estimates of COVID-19 in a densely populated urban community of Karachi, Pakistan.
Methods: Three cross-sectional surveys were conducted in April, June and August in low- and high-transmission neighborhoods. Participants were randomly selected to provide blood for Elecsys® immunoassay for detection of anti-SARS-CoV-2 antibodies. Bayesian regression model was used to estimate seroprevalence after adjusting for the demographic characteristics of each district RESULTS: We enrolled 3005 participants from 623 households. In Phase 2, adjusted seroprevalence was estimated as 8.7% (95% CI 5.1-13.1) and 15.1% (95% CI 9.4 -21.7) in low and high transmission areas respectively, compared to 0.2% …

Bovine Lactoferrin To Prevent Neonatal Infections In Low-Birth-Weight Newborns In Pakistan: Protocol For A Three-Arm Double-Blind Randomized Controlled Trial, Shabina Ariff, Sajid Bashir Soofi, Almas Aamir, Michelle D'Almeida, Arzina Aziz Ali, Ashraful Alam, Michael Dibley

Department of Paediatrics and Child Health

Background: Sepsis is a common and severe complication in premature neonates, particularly those born with low birth weights (<2500 >g). Neonatal sepsis is steadily emerging as a leading cause of neonatal mortality in Pakistan. Lactoferrin is a natural product with broad-spectrum antimicrobial properties and glycoprotein that is actively involved in innate immune host responses. Clinical trials have revealed its protective effect on sepsis, but lactoferrin dosage, duration, and role in the prevention of sepsis are still uncertain.
Objective: We aimed to establish the efficacy of bovine lactoferrin in the prevention of late-onset sepsis and to determine the optimal dose and …

Feasibility, Usability And Acceptability Of Paediatric Lung Ultrasound Among Healthcare Providers And Caregivers For The Diagnosis Of Childhood Pneumonia In Resource-Constrained Settings: A Qualitative Study, Atif Riaz, Olga Cambaco, Laura Elizabeth Ellington, Jennifer L. Lenahan, Khatia Munguambe, Usma Mehmood, Sana Qaisar, Benazir Baloch, Muhammad Imran Nisar, Fyezah Jehan

Department of Paediatrics and Child Health

Objectives: Paediatric pneumonia burden and mortality are highest in low-income and middle-income countries (LMIC). Paediatric lung ultrasound (LUS) has emerged as a promising diagnostic tool for pneumonia in LMIC. Despite a growing evidence base for LUS use in paediatric pneumonia diagnosis, little is known about its potential for successful implementation in LMIC. Our objectives were to evaluate the feasibility, usability and acceptability of LUS in the diagnosis of paediatric pneumonia.
Design: Prospective qualitative study using semistructured interviews SETTING: Two referral hospitals in Mozambique and Pakistan PARTICIPANTS: A total of 21 healthcare providers (HCPs) and 20 caregivers were enrolled.
Results: HCPs …

Implementation And Evaluation Of A Social Media-Based Communication Strategy To Enhance Employee Engagement: Experiences From A Children's Hospital, Pakistan, Muneera A. Rasheed, Alma Arshad Hookmani, Sana Waleed, H Sundus Fatima, Soha Siddiqui, Muhammad Khurram, Babar Hasan

Department of Paediatrics and Child Health

Social media can complement organizational communication strategy which is integral to employee engagement. However, successful case studies which can allow replication are limited. The objective of the study is to describe the design, implementation, and evaluation of a social media-based communication strategy in a tertiary care hospital in Pakistan. The leadership of the pediatric service line developed an intervention plan to engage the employees with the newly reframed vision to improve patient and family experience. An online communication platform-Facebook page-was created for all employees of the pediatric service line. The strategy to influence employees was based on Cialdini's six principles …

Development And Feasibility Testing Of A Play-Based Psychosocial Intervention For Reduced Patient Stress In A Pediatric Care Setting: Experiences From Pakistan, Muneera A. Rasheed, Vardah Bharuchi, Waliyah Mughis, Ayesha Hussain

Department of Paediatrics and Child Health

Background: Hospitalization can be a source of great stress for children and their families. In high-income countries, there are specialized staff to help children cope using different techniques including play. However, it is a major challenge in low and middle-income countries (LMIC) due to financial constraints and untrained human resource. The objective of study was to develop and test the feasibility and acceptance of a psychology trainee-delivered model postulated on employing play as a means of enhancing child-parent interactions leading to reduced stress during hospitalization.
Methods: This study was conducted in the paediatric ward of a tertiary care private hospital …

Effectiveness Of Transcutaneous Bilirubin Measurement In High-Risk Neonates And To Evaluate Validity Of Transcutaneous Bilirubin With Total Serum Bilirubin Levels In Both Low And High-Risk Neonates At A Tertiary Care Center In A Developing Country, Durre Shahwar Khan, Adnan Mirza, Areesh Bhatti, Ali Shabbir Hussain, Batha Tariq, Arjumand Rizvi

Department of Paediatrics and Child Health

Objectives: To evaluate the usefulness of transcutaneous bilirubin (TcBR) nomogram in high-risk neonates and to identify the validity of TcBR and total serum bilirubin (TsBR) in both low and high-risk neonates to guide management in under-resourced settings.
Methodology: A cross-sectional study was conducted at the well-baby nursery of a tertiary care center in Karachi, Pakistan. All neonates admitted in the well-baby nursery with jaundice were stratified into high and low-risk groups. Eighty-seven neonates were included in the low-risk group and 121 neonates in the high-risk group. The usefulness of the TcBR nomogram in high-risk neonates and the validity of TcBR …

Is Covid-19 Pushing Us To The Fifth Industrial Revolution (Society 5.0)?, Zouina Sarfraz, Azza Sarfraz, Hamza M. Iftikar, Ramsha Akhund

Department of Paediatrics and Child Health

The coronavirus disease 2019 (COVID-19) pandemic may further promote the development of Industry 4.0 leading to the fifth industrial revolution (Society 5.0). Industry 4.0 technology such as Big Data (BD) and Artificial Intelligence (AI) may lead to a personalized system of healthcare in Pakistan. The final bridge between humans and machines is Society 5.0, also known as the super-smart society that employs AI in healthcare manufacturing and logistics. In this communication, we review various Industry 4.0 and Society 5.0 technologies including robotics and AI being inspected to control the rate of transmission of COVID-19 globally. We demonstrate the applicability of …

Association Between Preterm-Birth Phenotypes And Differential Morbidity, Growth, And Neurodevelopment At Age 2 Years: Results From The Interbio-21st Newborn Study, Jose Villar, María C. Restrepo-Méndez, Rose Mcgready, Fernando C. Barros, Cesar G. Victora, Shama Munim, Aris T. Papageorghiou, Roseline Ochieng, Rachel Craik, Zulfiqar Ahmed Bhutta

Department of Obstetrics & Gynaecology

Importance: The etiologic complexities of preterm birth remain inadequately understood, which may impede the development of better preventative and treatment measures.
Objective: To examine the association between specific preterm-birth phenotypes and clinical, growth, and neurodevelopmental differences among preterm newborns compared with term newborns up to age 2 years.
Design, setting, and participants: The INTERBIO-21st study included a cohort of preterm and term newborn singletons enrolled between March 2012 and June 2018 from maternity hospitals in 6 countries worldwide who were followed up from birth to age 2 years. All pregnancies were dated by ultrasonography. Data were analyzed from November 2019 …

Growth Of Preterm Very Low Birth Weight Infants Discharged With Weight Of Less Than 1500grams, Yaser Abdallah, Flavia Namiiro, Jolly Nankunda, Jamiru Mugalu, Yvonne Vaucher

Paediatrics and Child Health, East Africa

Early discharge of preterm very low birth weight (VLBW) infants is at times inevitable in low resource settings. The implication of such practice on the growth of this high-risk population is not known. We conducted a retrospective chart review to describe the growth of preterm VLBW infants discharged with a weight of less than 1500 g.

Objectives: To describe the growth of discharged preterm VLBW infants over the first 12 weeks.

Method: Between June 2013 and January 2014; 164 discharged preterm VLBW infants were followed up for 3 months. Among the survivors (132), we identified 111 infant records for …

Enteric Fever, Buddha Basnyat, Farah Naz Qamar, Priscilla Rupali, Tahmeed Ahmed, Christopher M. Parry

Department of Paediatrics and Child Health

No abstract provided.

Gliosarcoma In Patients Under 20 Years Of Age. A Clinicopathologic Study Of 11 Cases And Detailed Review Of The Literature, Nasir Ud Din, Hira Ishtiaq, Shabina Rahim, Jamshid Abdul Ghafar, Zubair Ahmad

Department of Pathology and Laboratory Medicine

Background: Gliosarcoma is a rare variant of IDH- wild type glioblastoma with both glial and mesenchymal differentiation. It accounts for approximately 2% of glioblastomas and has a poor prognosis similar to that of classic glioblastoma. It is seen mostly between 40 and 60 years of age with a mean age over 50 years. Pediatric gliosarcoma is even rarer than gliosarcoma in adults. We describe the clinicopathological features of gliosarcoma in patients under 20 years of age and determine whether there are significant differences from gliosarcoma in adults. We also present detailed review of published literature on pediatric gliosarcoma.
Methods: Slides …

Clinical Signs Predictive Of Severe Illness In Young Pakistani Infants, Shahira Shahid, Shiyam Sunder Tikmani, Kanwal Nayani, Ayesha Munir, Nick Brown, Anita K. M. Zaidi, Fyezah Jehan, Muhammad Imran Nisar

Department of Paediatrics and Child Health

Objective: Early detection of specific signs and symptoms to predict severe illness is essential to prevent infant mortality. As a continuation of the results from the multicenter Young Infants Clinical Signs and Symptoms (YICSS) study, we present here the performance of the seven-sign algorithm in 3 age categories (0-6 days, 7-27 days and 28-59 days) in Pakistani infants aged 0-59 days.
Results: From September 2003 to November 2004, 2950 infants were enrolled (age group 0-6 days = 1633, 7-27 days = 817, 28-59 days = 500). The common reason for seeking care was umbilical redness or discharge (29.2%) in the …

Analysis Of 114 Pedigrees Of Renal Stone Patients: A Retrospective Review, Syed Raziuddin Biyabani, Jamsheer Jehangir Talati, Daniya Umer, Zehra Kazmi, Hussam Uddin Soomro, Rubab Mansoor

Section of Urology

Background: Renal and ureteric stones (RS) can form due to genetic, metabolic, environmental, and diet-hydration related factors. Studies have shown that patients with family history (FH) of RS have higher likelihood of recurrence.
Materials and methods: We conducted a retrospective cross-sectional study on 114 pedigrees to investigate the impact of FH on recurrence of RS and examine patterns of inheritance. Results: Family history of renal stone disease was found in 42% of all patients. There was a significant increase of stone recurrence in RS patients with a positive FH (p=0.001). Seventy-one percent of patients with recurrent stones had at least …

Conducting Household Surveys On Reproductive Health In Urban Settings: Lessons From Karachi, Pakistan, Mirbaz Khan, Sidrah Nausheen, Imtiaz Hussain, Kristy Hackett, Kaneez Zehra, Khalid Feroz, David Cannin, Iqbal Shah, Sajid Bashir Soofi

Department of Paediatrics and Child Health

Background: Data collection is the most critical stage in any population health study and correctly implementing fieldwork enhances the quality of collected information. However, even the most carefully planned large-scale household surveys can encounter many context-specific issues. This paper reflected on our research team's recent experience conducting surveys for a quasi-experimental evaluation of a reproductive health program in urban areas of Karachi, Pakistan. We aim to describe the issues encountered and lessons learned from this process, and present some potential solutions for conducting future household surveys in similar urban environments.
Methods: The study followed a three-stage random sampling design. Initially, …

Randomized Controlled Trials Of Remdesivir In Hospitalized Coronavirus Disease 2019 Patients: A Meta-Analysis, Azza Sarfraz, Zouina Sarfraz, Marcos Sanchez-Gonzalez, Jack Michel, George Michel, Odalys Frontela, Jorge Posada, Jose Cardona, Eugenio Angueira

Department of Paediatrics and Child Health

Background: The first cases of the coronavirus disease 2019 (COVID-19) were reported in Wuhan, China. No antiviral treatment options are currently available with proven clinical efficacy. However, preliminary findings from phase III trials suggest that remdesivir is an effective and safe treatment option for COVID-19 patients with both moderate and severe disease.
Objective: The aim of the present meta-analysis was to investigate whether remdesivir was effective for treating COVID-19 including reduced in-hospital adverse events, oxygen support, and mortality rates.
Methods: According to the PRISMA reporting guidelines, a review was conducted from January 1, 2020, until August 25, 2020, with MeSH …

Use Of Artificial Intelligence On Electroencephalogram (Eeg) Waveforms To Predict Failure In Early School Grades In Children From A Rural Cohort In Pakistan, Muneera A. Rasheed, Prem Chand, Saad Ahmed, Hamza Sharif, Zahra Hoodbhoy, Ayat Siddiqui, Babar S. Hasan

Department of Paediatrics and Child Health

Universal primary education is critical for individual academic growth and overall adult productivity of nations. Estimates indicate that 25% of 59 million primary age out of school children drop out and early grade failure is one of the factors. An objective and feasible screening measure to identify at-risk children in the early grades can help to design appropriate interventions. The objective of this study was to use a Machine Learning algorithm to evaluate the power of Electroencephalogram (EEG) data collected at age 4 in predicting academic achievement at age 8 among rural children in Pakistan. Demographic and EEG data from …

Abstract To Publication Conversion In Pediatric Critical Care Medicine In Pakistan, Anwarul Haque, Mohammad Shahzad, Humaira Jurair, Naveed Ur Rehman Siddiqui, Sidra Ishaque, Qalab Abbas

Department of Paediatrics and Child Health

Background: To determine the rate of conversion of abstracts presented at conferences into full-text articles published in peer-reviewed journals in the field of pediatric critical care medicine (PCCM) in a developing country.
Methods: We retrospectively reviewed PCCM abstracts from Pakistan presented at national and international pediatric and critical care conferences over 10 years (January 2010 to March 2020). Data included abstract characteristics, such as presentation (poster/oral), presenter (fellow/resident), time of meeting (month and year), type of meeting, study design and topic; and publication characteristics, such as journal name, time (month and year) and first author. The primary outcome was publication …

Impact Of 10-Valent Pneumococcal Conjugate Vaccine (Pcv10) On Nasopharyngeal Carriage In Children 2 Years Of Age: Data From A Four-Year Time Series Cross-Sectional Study From Pakistan, Muhammad Imran Nisar, Shahira Shahid, Sajid Muhammad, Farah Khalid, Amjad Hussain, Sheraz Ahmed, Sadia Shakoor, Furqan Kabir, Aneeta Hotwani, Syed Asad Ali, Anita K. M. Zaidi, Fyezah Jehan, Najeeha Talat Iqbal

Department of Paediatrics and Child Health

The dataset described in this paper was collected for a time-series cross-sectional study exploring the impact of 10-valent Pneumococcal Conjugate Vaccine (PCV10) on nasopharyngeal (NP) carriage in children under 2 years of age from a rural population in Sindh, Pakistan. The study was carried out in two union councils of Matiari - Khyber and Shah Alam Shah Jee Wasi (Latitude 25.680298 / Longitude 68.502711). Data was collected on socio-demographics, clinical characteristics and vaccination status using android phone-based application. NP samples were collected using standard World Health Organisation (WHO) techniques, culture and serotyping was done using sequential Multiplex PCR described by …

Intramedullary Spinal Cord Lesions In Children, Ummey Hani, Sameer Saleem Tebha, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim

Section of Neurosurgery

Paediatric intramedullary spinal cord lesions are uncommon pathologies, prone to result in dismal prognosis if not managed promptly and aggressively. While children usually present in good functional grades compared to adults, early recognition and treatment is important to improve outcomes. In this review, we present tumour demographics, patient factors, and treatment modalities of intramedullary spinal cord lesions in paediatric patients.

Lung Ultrasound Patterns In Paediatric Pneumonia In Mozambique And Pakistan, Amy Sarah Ginsburg, Pio Vitorino, Zunera Qasim, Jennifer L. Lenahan, Jun Hwang Jun Hwang, Alessandro Lamorte, Marta Valente, Benazir Baloch, Muhammad Imran Nisar, Fyezah Jehan

Department of Paediatrics and Child Health

Objective: Improved pneumonia diagnostics are needed, particularly in resource-constrained settings. Lung ultrasound (LUS) is a promising point-of-care imaging technology for diagnosing pneumonia. The objective was to explore LUS patterns associated with paediatric pneumonia.
Methods: We conducted a prospective, observational study among children aged 2 to 23 months with World Health Organization Integrated Management of Childhood Illness chest-indrawing pneumonia and among children without fast breathing, chest indrawing or fever (no pneumonia cohort) at two district hospitals in Mozambique and Pakistan. We assessed LUS and chest radiograph (CXR) examinations, and viral and bacterial nasopharyngeal carriage, and performed a secondary analysis of LUS …

Magnetic Resonance Imaging Findings In Childhood Epilepsy At A Tertiary Hospital In Kenya, Pauline Samia, Nicholas Odero, Maureen Njoroge, Shem Ochieng, Jacqueline Mavuti, Sheila Waa, Samson Gwer

Paediatrics and Child Health, East Africa

Background: Neuroimaging is important for determining etiology and guiding care in early childhood epilepsy. However, access to appropriate imaging in sub-Saharan Africa is modest, and as a consequence, etiological descriptions of childhood epilepsy in the region have been limited. We sought to describe MRI findings in children with epilepsy presenting to a tertiary hospital in Nairobi, Kenya, over a 6-year period of routine care.

Materials and Methods: We undertook a retrospective review of MRI findings of children aged between 0 and 18 years with a diagnosis of epilepsy presenting to the pediatric neurology department of Aga Khan University Hospital in …

Accuracy Of Procalcitonin Levels For Diagnosis Of Culture-Positive Sepsis In Critically Ill Trauma Patients: A Retrospective Analysis, Aisha Bakhtiar, Syed Jawad Haider Kazmi, Muhammad Sohaib Asghar, Muhammad Nadeem Khurshaidi, Salman Mazhar, Noman A. Khan, Nisar Ahmed, Farah Yasmin, Rabail Yaseen, Maira Hassan

Section of Cardiothoracic Surgery

Background: Abdominal trauma and intra-abdominal sepsis are associated with significant morbidity and mortality. Microcirculation in the gut is disrupted in hemorrhagic and septic shock leading to tissue hypoxia, and the damaged gut acts as a reservoir rich in inflammatory mediators and provides a continual source of inflammation to the systemic circulation leading to sepsis. Sepsis is defined as the presence (probable or documented) of infection together with a systemic inflammatory response to infection. Blood culture is commonly considered to be the preferred approach for diagnosing sepsis, although it is time-consuming, that is, reports are normally available only after 12-48 hours. …

Mucosal Genomics Implicate Lymphocyte Activation And Lipid Metabolism In Refractory Environmental Enteric Dysfunction, Najeeha Talat Iqbal, Najeeb Rahman, Kamran Sadiq, Zubair Ahmad, Romana Idress, Junaid Iqbal, Sheraz Ahmed, Aneeta Hotwani, Fayyaz Umrani, Sana Syed, Syed Asad Ali

Department of Paediatrics and Child Health

Background & aims: Environmental enteric dysfunction (EED) limits the Sustainable Development Goals of improved childhood growth and survival. We applied mucosal genomics to advance our understanding of EED.
Methods: The Study of Environmental Enteropathy and Malnutrition (SEEM) followed 416 children from birth to 24 months in a rural district in Pakistan. Biomarkers were measured at 9 months and tested for association with growth at 24 months. The duodenal methylome and transcriptome was determined in 52 undernourished SEEM participants and 42 North American controls and celiac disease patients.
Results: After accounting for growth at study entry, circulating IGF-1 and ferritin predicted …

Meropenem-Induced Pancytopenia In A Preterm Neonate: A Case Report, Kashif Hussain, Muhammad Sohail Salat, Naureen Mohammad, Ambreen Mughal, Sidra Idrees, Javaid Iqbal, Gul Ambreen

Department of Biological & Biomedical Sciences

Background: A post-marketing surveillance study has reported an association between meropenem use and the incidence of hematologic abnormalities, including leukopenia, thrombocytopenia, hemolysis, and neutropenia, but the precise incidence in neonates is unknown. Here, we report meropenem-induced pancytopenia in a preterm neonate.
Case presentation: A preterm newborn Pakistani received intravenous meropenem 40 mg/kg every 8 hours to treat Klebsiella pneumoniae in blood cultures and suspected meningitis. The baby developed severe thrombocytopenia, with a platelet count of 22 × 10³ cells/mm³, low hemoglobin level of 9.7 g/dl, and low absolute neutrophil count (ANC) of 816 cells/mm³ on days …

Characteristics Of Salmonella Recovered From Stools Of Children Enrolled In The Global Enteric Multicenter Study, Irene N. Kasumba, Caisey V. Pulford, Blanca M. Perez-Sepulveda, Sunil Sen, Nurulla Sayed, Jasnehta Permala-Booth, Sofie Livio Sofie Livio, Darren Heavens Darren Heavens, Ross Low Ross Low, Shahida Qureshi, Anita K. M. Zaidi

Department of Paediatrics and Child Health

Background: The Global Enteric Multicenter Study (GEMS) determined the etiologic agents of moderate-to-severe diarrhea (MSD) in children under 5 years old in Africa and Asia. Here, we describe the prevalence and antimicrobial susceptibility of non-typhoidal Salmonella (NTS) serovars in GEMS and examine the phylogenetics of Salmonella Typhimurium ST313 isolates.
Methods: Salmonella isolated from children with MSD or diarrhea-free controls were identified by classical clinical microbiology and serotyped using antisera and/or whole genome sequence data. We evaluated antimicrobial susceptibility using the Kirby-Bauer disk diffusion method. Salmonella Typhimurium sequence types were determined using multi-locus sequence typing and whole genome sequencing was performed …

X-Linked Hypophosphatemic Osteomalacia With Phex Mutation Presenting Late In Pakistan, Nawazish Zehra, Lena Jafri, Salman Kirmani, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Abstract.introduction.and.importance: Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons.
Case presentation: We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth.
Clinical discussion: A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the …

A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson

Department of Paediatrics and Child Health

Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …

Hajdu Cheney Syndrome Due To Notch2 Defect - First Case Report From Pakistan And Review Of Literature, Sibtain Ahmed, Aahan Arif, Saadia Abbas, Muhammad Osama Khan, Salman Kirmani, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Introduction and importance: Hajdu Cheney Syndrome (HCS) is a rare skeletal disease characterized by severe, progressive focal bone loss with osteoporosis, variable craniofacial, vertebral anomalies and distinctive facial features. It is inherited as an autosomal dominant disease although sporadic cases have been described in literature. Identifying these cases in clinical practice is important for proper diagnosis and management.
Case presentation: We report a case of a 36-year-old male patient presented at metabolic bone disease clinic at the Aga Khan University Hospital with history of multiple fragility fractures and juvenile osteoporosis since childhood. DNA sequence analysis of the NOTCH2 coding sequence …