Digital Commons Network^™

Diet And Polycystic Kidney Disease: A Pilot Intervention Study., Jacob M. Taylor, Jill M. Hamilton-Reeves, Debra K. Sullivan, Cheryl A. Gibson, Catherine Creed, Susan E. Carlson, Donald E. Wesson, Jared J. Grantham

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND & AIMS: Dietary sodium, protein, acid precursors, and water have been linked to cyst growth in polycystic kidney disease; yet, no studies in patients have examined the feasibility of using a dietary intervention that controls all of these factors. The aim of this study was to determine if a diet, appropriate for persons of most ages, reduces the excretion of sodium, urea, acid, and decreases mean urine osmolality while gaining acceptance by patients with autosomal dominant polycystic kidney disease (ADPKD).

METHODS: Twelve adults with ADPKD enrolled in a pre-post pilot feasibility study and served as their own controls. Individuals …

Renin-Angiotensin Ii-Aldosterone System Blockers And Time To Renal Replacement Therapy In Children With Ckd., Alison G. Abraham, Aisha Betoko, Jeffrey J. Fadrowski, Christopher Pierce, Susan L. Furth, Bradley A. Warady, Alvaro Muñoz

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Clinical care decisions to treat chronic kidney disease (CKD) in a growing child must often be made without the benefit of evidence from clinical trials. We used observational data from the Chronic Kidney Disease in Children cohort to estimate the effectiveness of renin-angiotensin II-aldosterone system blockade (RAAS) to delay renal replacement therapy (RRT) in children with CKD.

METHODS: A total of 851 participants (median age: 11 years, median glomerular filtration rate [GFR]: 52 ml/min/1.73 m

RESULTS: There were 217 RRT events over a 4.1-year median follow-up. At baseline, 472 children (55 %) were prevalent RAAS users, who were more …

Appendicular Mass – A Rare Form Of Tuberculosis, Petrisor Banu, Vlad D. Constantin, Florian Popa, Mircea Bratucu, Teodora Vladescu, Cristian Balalau

Journal of Mind and Medical Sciences

Tuberculosis is in the top 10 causes of death worldwide, being one of the most deadly infectious diseases. It is estimated that one of three people from the entire earth population has a latent infection with M tuberculosis. This aerobic bacterium possesses the ability to persist in host tissues for years and to begin replication once immunity declines.

The lungs are most frequent site of infection as the Mycobacterium tuberculosis is carried by aerosol droplets and is commonly transmitted by respiratory route. The second way of transmission is by contaminated food.

Intestinal contamination coexists with pulmonary tuberculosis and only 10% …

The Association Between Vitamin D 25(Oh)D Level Andalbuminuria In Type 2 Diabetes Mellitus, Tities Anggraeni Indra, Aida Lydia, Dyah Purnamasari, Siti Setiati

Jurnal Penyakit Dalam Indonesia

Introduction. Vitamin D 25(OH)D deficiency was reported as a possible risk factor for the development of diabetic nephropathy in several epidemiologic studies. Whether vitamin D 25(OH)D deficiency plays a role in the development of diabetic nephropathy in Indonesia is unknown. This study aims to determinate the association between vitamin D 25(OH)D level with albuminuria in patients with type 2 diabetes mellitus in Indonesia. Methods. A cross-sectional study was conducted in 96 patients with type 2 diabetes mellitus at outpatient clinic of MetabolicEndocrine Cipto Mangunkusumo Hospital. Serum vitamin D level was assessed using Diasorin kit with CLIA method, while albuminuria was …

Risk Factors Of Antituberculosis Induced-Hepatotoxicity Amonghiv/Aids Patients, Lies Luthariana, Teguh H. Karjadi, Irsan Hasan, C. Martin Rumende

Jurnal Penyakit Dalam Indonesia

Introduction. Antituberculosis (ATT) induced hepatotoxicity is commonly found among HIV/AIDS patients. Several risk factor related to drug-induced hepatotoxicity such as alcoholism, hepatitis B or hepatitis C infection, abnormal baseline aminotransferase/bilirubin, poor nutritional status and concomitant hepatotoxic drugs consumption, are usually found in these patients. This study was conducted to evaluate risk factor of ATT-induced hepatotoxicity in HIV/AIDS patients. Methods. This is a case control retrospective study with matching of age, sex, antituberculosis regimen, and alcohol consumption. Risk factors evaluated are hepatitis C and hepatitis B coinfection, concomitant hepatotoxic drugs consumption, abnormal baseline aminotransferase and or bilirubin. Results. We collected data …

Predictors Of Virological Failure In Hiv Patients Receiving Firstline Antiretroviral Therapy With Good Adherence, Farid Kurniawan, Samsuridjal Djauzi, Evy Yunihastuti, Pringgodigdo Nugroho

Jurnal Penyakit Dalam Indonesia

Introduction. Antiretroviral therapy (ART) effectively suppress HIV replication. Viral load (VL) measurement is better predictor than clinical or immunological criteria to evaluate success or failure of ART. However, in country with limited resources, viral load measurement is not easily accessible by HIV patients receiving ART. Therefore, it is necessary to know which factors that can predict virological failure. In previous studies, adherence was an important factor for suppression of HIV viral load. This study is aimed to know predictors of virological failure in HIV patients receiving recent first line ART regimen with good adherence in Indonesia. Methods. A retrospective cohort …

Effect Of Structured Education And Antihypertensive Medicationsadherence To Decrease Blood Pressure For Hypertension Inelderly: A Randomized Controlled Trial, Ayatullah Khomaini, Siti Setiati, Aida Lydia, Esthika Dewiasty

Jurnal Penyakit Dalam Indonesia

Introduction. Hypertension is one of the important problems in elderly due to high impact of cardiovascular complications. Education and antihypertensive medication adherence are considered as influence factors in a holistic and comprehensive hypertension treatment. This study was conducted to determine the effect of structured education and antihypertensive medication adherence in decreasing blood pressure as part of the hypertension treatment in elderly patients. Methods. A randomized clinical trial was conducted in October 2012 to February 2013 on hypertensive elderly patients at Cipto Mangunkusumo hospital, Jakarta. Subjects were divided into 3 groups: group I was received structured education and checklist, group II …

Factors Related To 30 Day Mortality In Critically Ill Patients Withinvasive Candidiasis In Cipto Mangunkusumo Hospital, Ardi Ardian, Ceva W. Pitoyo, Dita Adhitianingsih, Widayat Djoko Santoso, Siti Setiati

Jurnal Penyakit Dalam Indonesia

Introduction. Mortality rate of invasive candidiasis is still high, approximately 30-70%. Every study has a variety mortality rate depend on study design and sample. There is no data in Indonesia about profile and mortality factors analysis in critically ill patients with invasive candidiasis. Methods. The Study design was cross sectional. We studied 102 hospitalized critically ill patients with invasive candidiasis. The demographic, clinical and laboratory data, the risk factors for invasive candidiasis and the outcome of each patient in 30 days were recorded. An analysis bivariate with chi square or Fisher’s test was carried out to analyse some factors such …

History Of Periodontitis Diagnosis And Edentulism As Predictors Of Cardiovascular Disease, Stroke, And Mortality In Postmenopausal Women., Michael J Lamonte, Robert J Genco, Kathleen M Hovey, Robert B Wallace, Jo L Freudenheim, Dominique S Michaud, Xiaodan Mai, Lesley F Tinker, Christian R Salazar, Christopher A Andrews, Wenjun Li, Charles B Eaton, Lisa W Martin, Jean Wactawski-Wende

Medicine Faculty Publications

Background

Few studies have reported associations between periodontitis and cardiovascular disease (CVD) risk in older women, which is the objective of the present investigation.

Methods and Results

Participants were 57 001 postmenopausal women ages 55 to 89 years (mean 68 years; >85% 60 and older) who were enrolled (1993–1998) in the Women's Health Initiative Observational Study, and were without known CVD when history of periodontitis and edentulism was assessed by questionnaire at study Year‐5 (1998–2003). There were 3589 incident CVD events and 3816 total deaths during a mean follow‐up of 6.7 years. In multivariable analysis, periodontitis was not associated with …

Total Parenteral Nutrition In Patients Following Pancreaticoduodenectomy: Lessons From 1184 Patients, Cullen Worsh, Talar Tatarian, Md, Pgy-4, Awinder Singh, Michael J. Pucci, Md, Jordan M Winter, Md, Charles J. Yeo, Md, Harish Lavu, Md

Department of Surgery Posters

Poster presented at Sigma XI Student Research Day at Thomas Jefferson University.

Background:

Total parenteral nutrition (TPN) has historically been used conservatively in the management of patients after pancreaticoduodenectomy (PD).

In this study, we evaluate the indications for and outcomes associated with TPN use in a high-volume pancreatic surgery center.

Galactose And Its Metabolites Deteriorate Metaphase Ii Mouse Oocyte Quality And Subsequent Embryo Development By Disrupting The Spindle Structure, Mili Thakur, Faten Shaeib, Sana N. Khan, Hamid-Reza Kohan-Ghader, Roohi Jeelani, Sarah R. Aldhaheri, Bernard Gonik, Husam M. Abu-Soud

C.S. Mott Center Research Publications

Premature ovarian insufficiency (POI) is a frequent long-term complication of classic galactosemia. The majority of women with this disorder develop POI, however rare spontaneous pregnancies have been reported. Here, we evaluate the effect of D-galactose and its metabolites, galactitol and galactose 1-phosphate, on oocyte quality as well as embryo development to elucidate the mechanism through which these compounds mediate oocyte deterioration. Metaphase II mouse oocytes (n=240), with and without cumulus cells (CCs), were exposed for 4hours to D-galactose (2μM), galactitol (11μM) and galactose 1-phosphate (0.1mM), (corresponding to plasma concentrations in patients on galactoserestricted diet) and compared to controls. The treated …

Implementation Of Clinical Research Trials Using Web-Based And Mobile Devices: Challenges And Solutions., Roy Eagleson, Luis Altamirano-Diaz, Alex Mcinnis, Eva Welisch, Stefanie De Jesus, Harry Prapavessis, Meghan Rombeek, Jamie A Seabrook, Teresa Park, Kambiz Norozi

Paediatrics Publications

BACKGROUND: With the increasing implementation of web-based, mobile health interventions in clinical trials, it is crucial for researchers to address the security and privacy concerns of patient information according to high ethical standards. The full process of meeting these standards is often made more complicated due to the use of internet-based technology and smartphones for treatment, telecommunication, and data collection; however, this process is not well-documented in the literature.

RESULTS: The Smart Heart Trial is a single-arm feasibility study that is currently assessing the effects of a web-based, mobile lifestyle intervention for overweight and obese children and youth with congenital …

Neurologic Correlates Of Gait Abnormalities In Cerebral Palsy: Implications For Treatment, Joanne Zhou, Erin E. Butler, Jessica Rose

Dartmouth Scholarship

Cerebral palsy (CP) is the most common movement disorder in children. A diagnosis of CP is often made based on abnormal muscle tone or posture, a delay in reaching motor milestones, or the presence of gait abnormalities in young children. Neuroimaging of high-risk neonates and of children diagnosed with CP have identified patterns of neurologic injury associated with CP, however, the neural underpinnings of common gait abnormalities remain largely uncharacterized. Here, we review the nature of the brain injury in CP, as well as the neuromuscular deficits and subsequent gait abnormalities common among children with CP. We first discuss brain …

Associations Between Genetic Variants In Mrna Splicing-Related Genes And Risk Of Lung Cancer: A Pathway-Based Analysis From Published Gwass, Yongchu Pan, Hongliang Liu, Yanru Wang, Xiaozheng Kang, Kouros Owzar, Younghun Han

Dartmouth Scholarship

mRNA splicing is an important mechanism to regulate mRNA expression. Abnormal regulation of thisprocess may lead to lung cancer. Here, we investigated the associations of 11,966 single-nucleotide polymorphisms (SNPs) in 206 mRNA splicing-related genes with lung cancer risk by using the summarydata from six published genome-wide association studies (GWASs) of Transdisciplinary Research in Cancerof the Lung (TRICL) (12,160 cases and 16,838 controls) and another two lung cancer GWASs of Harvard University (984 cases and 970 controls) and deCODE (1,319 cases and 26,380 controls). We found that a total of 12 significant SNPs with false discovery rate (FDR) ≤0.05 were mapped …

Reducing Caregiver Burden: Fostering Healthy Aging And Social Support, Maria A. Rodriguez

USF Tampa Graduate Theses and Dissertations

Over 43.5 million Americans provide informal care to a fast-growing elderly population in the United States. Informal care allows care-recipients to remain functional members of society. However, research suggests that the demands of informal care can negatively impact the health of caregivers. For example, caregiver burden increases the risk for poor health in caregivers compared to non-caregivers. Caregiving research is on the rise, but the dynamics of informal care in active retirement communities remains widely unexplored. To provide adequate services to lessen caregiver burden and improve the Quality of Life (QoL) of informal caregivers, the various settings in which informal …

Mortality Associated With Gastrointestinal Bleeding In Children: A Retrospective Cohort Study., Thomas M. Attard, Mikaela Miller, Chaitanya Pant, Ashwath Kumar, Mike Thomson

Manuscripts, Articles, Book Chapters and Other Papers

AIM: To determine the clinical characteristics of children with gastrointestinal bleeding (GIB) who died during the course of their admission.

METHODS: We interrogated the Pediatric Hospital Information System database, including International Classification of Diseases, Current Procedural Terminology and Clinical Transaction Classification coding from 47 pediatric tertiary centers extracting the population of patients (1-21 years of age) admitted (inpatient or observation) with acute, upper or indeterminate GIB (1/2007-9/2015). Descriptive statistics, unadjusted univariate and adjusted multivariate analysis of the associations between patient characteristics and treatment course with mortality was performed with mortality as primary and endoscopy a secondary outcome of interest. All …

Gastrointestinal-Renal Axis: Role In The Regulation Of Blood Pressure., Jian Yang, Pedro A Jose, Chunyu Zeng

Medicine Faculty Publications

Hypertension is one of the most common and important health problems worldwide.1 It has been estimated that 29% of the world's adult population, or 1.56 billion people, will have hypertension by the year 2025.2The prevalence of high blood pressure and its adverse consequences result in a heavy burden for hypertensive patients from high‐, middle‐, and low‐income countries.2, 3 Many monogenic causes of hypertension have been reported. However, determining the causes of essential hypertension has been hampered because it is a complex disorder with genetic, epigenetic, and environmental determinants. Among numerous environmental factors, sodium intake is …

Using A Multifaceted Approach To Working With Children Who Have Differences In Sensory Processing And Integration, Stacey Reynolds, Tara J. Glennon, Karla Ausderau, Roxanna M. Bendixen, Heather Miller-Kuhaneck, Beth Pfeiffer, Renee Watling, Kimberly Wilkinson, Stefanie C. Bodison

Occupational Therapy Faculty Publications

Pediatric occupational therapy practitioners frequently provide interventions for children with differences in sensory processing and integration. Confusion exists regarding how best to intervene with these children and about how to describe and document methods. Some practitioners hold the misconception that Ayres Sensory Integration intervention is the only approach that can and should be used with this population. The issue is that occupational therapy practitioners must treat the whole client in varied environments; to do so effectively, multiple approaches to intervention often are required. This article presents a framework for conceptualizing interventions for children with differences in sensory processing and integration …

Waiting 2 Minutes After Sucrose Administration—Unnecessary?, Naomi Meesters, Sinno Simons, Joost Van Rosmalen, Irwin Reiss, John Van Den Anker, Monique Van Dijk

Pediatrics Faculty Publications

Background Worldwide, oral sucrose is standard of care in many neonatal intensive care units to relieve procedural pain in neonates. This study aims to determine if time interval between sucrose administration and heelstick correlates with pain scores.

Methods Neonates were prospectively studied with variable time intervals and assessed with the Premature Infant Pain Profile-Revised (PIPP-R).

Results 150 neonates were included with a median gestational age of 30⁺⁶ (IQR 27⁺⁶–33⁺²) weeks and a median time interval of 72 (IQR 39–115) seconds between sucrose administration and heelstick. In multiple regression analysis, this time interval was not significantly …

Nutritional Approaches To Achieve Weight Loss In Nonalcoholic Fatty Liver Disease., Christine C Hsu, Erik Ness, Kris V Kowdley

Articles, Abstracts, and Reports

Nonalcoholic fatty liver disease (NAFLD) can range in spectrum from simple hepatic steatosis to nonalcoholic steatohepatitis (NASH), which is characterized by lipotoxicity, hepatocellular ballooning, and inflammation and can progress to cirrhosis. Weight loss is the cornerstone treatment for NAFLD and NASH. Various randomized controlled trials have shown that weight loss of ≥5-10% leads to significant improvements in hepatic steatosis. Diets high in sodium and fructose have been implicated in the pathogenesis of NAFLD. Although some clinical studies suggest that an isocaloric high-fructose diet does not worsen NAFLD, these clinical studies are often short in duration. More recently, the Dietary Approaches …

Rehabilitation Therapy In Older Acute Heart Failure Patients (Rehab-Hf) Trial: Design And Rationale., Gordon R. Reeves, David J. Whellan, Pamela Duncan, Christopher M. O'Connor, Amy M. Pastva, Joel D. Eggebeen, Leigh Ann Hewston, Timothy M. Morgan, Shelby D. Reed, W. Jack Rejeski, Robert J. Mentz, Paul B. Rosenberg, Dalane W. Kitzman

Division of Cardiology Faculty Papers

BACKGROUND: Acute decompensated heart failure (ADHF) is a leading cause of hospitalization in older persons in the United States. Reduced physical function and frailty are major determinants of adverse outcomes in older patients with hospitalized ADHF. However, these are not addressed by current heart failure (HF) management strategies and there has been little study of exercise training in older, frail HF patients with recent ADHF.

HYPOTHESIS: Targeting physical frailty with a multi-domain structured physical rehabilitation intervention will improve physical function and reduce adverse outcomes among older patients experiencing a HF hospitalization.

STUDY DESIGN: REHAB-HF is a multi-center clinical trial in …

Endothelin Signaling In Bone, Jasmin Kristianto, Michael Johnson, Rafia Afzal, Robert D. Blank

Department of Anaesthesia

The endothelin (ET) system includes 3 small peptide hormones and a pair of G-protein-coupled receptors. This review first outlines the ET signaling pathway and ET metabolism. Next, it summarizes the role of ET1 signaling in craniofacial development. Then, it discusses observations relating ET signaling to osteoblastic and other osteosclerotic processes in cancer. Finally, it describes recent work in our laboratory that points to endothelin signaling as an upstream mediator of WNT signaling, promoting bone matrix synthesis and mineralization. It concludes with a statement of some remaining gaps in knowledge and proposals for future research.

Surgical Site Infection And Transfusion Rates Are Higher In Underweight Total Knee Arthroplasty Patients., Jorge Manrique, Antonia F. Chen, Md, Mba, Miguel M. Gomez, Mitchell Maltenfort, Phd, William J. Hozack Md

Rothman Institute Papers

BACKGROUND: Underweight (UW) patients undergoing total hip arthroplasty have exhibited higher complication rates, including infection and transfusion. No study to our knowledge has evaluated UW total knee arthroplasty (TKA) patients. We, therefore, conducted a study to investigate if these patients are at increased risk for complications, including infection and transfusion.

METHODS: A case-control study was conducted using a prospectively collected institutional database. Twenty-seven TKA patients were identified as UW (body mass index [BMI] < 18.5 kg/m

RESULTS: The average BMI was 17.1 kg/m

CONCLUSIONS: Our study demonstrates that UW TKA patients have a higher likelihood of developing SSI and requiring blood transfusions. The …

Effect Of Cigarette Smoke Exposure And Mutant Kras Overexpression On Pancreatic Cell Proliferation, Howard P. Glauert, R. Scott Elliott, Sung Gu Han, Mark Athey, Eun Young Lee, C. Gary Gairola

Pharmacology and Nutritional Sciences Faculty Publications

Pancreatic cancer is the fourth leading cause of cancer‑associated mortality. The major risk factor for pancreatic cancer is cigarette smoking. Kras mutations are commonly observed in human pancreatic cancers. The present study examined the hypothesis that exposure to cigarette smoke and overexpression of a mutant Kras gene in the pancreas affects pancreatic cell proliferation in mice. Mice overexpressing the mutant Kras gene (KRas^G12D) in the pancreas as well as wild‑type mice were exposed to environmental tobacco smoke for 2 weeks. Overexpression of mutant Kras increased cell proliferation in pancreatic ductal, acinar and islet cells. Notably, cigarette smoke exposure …

Pre-Training Muscle Characteristics Of Subjects Who Are Obese Determine How Well Exercise Training Will Improve Their Insulin Responsiveness, Charles A. Stuart, Michelle L. Lee, Mark A. South, Mary E. A. Howell, Brian M. Cartwright, Michael W. Ramsey, Michael H. Stone

ETSU Faculty Works

Pre-training muscle characteristics of subjects who are obese determine how well exercise training will improve their insulin responsiveness. J Strength Cond Res 31(3): 798–808, 2017—Only half of prediabetic subjects who are obese who underwent exercise training without weight loss increased their insulin responsiveness. We hypothesized that those who improved their insulin responsiveness might have pretraining characteristics favoring a positive response to exercise training. Thirty nondiabetic subjects who were obese volunteered for 8 weeks of either strength training or endurance training. During training, subjects increased their caloric intake to prevent weight loss. Insulin responsiveness by euglycemic clamps and muscle fiber composition, …

Transcranial Direct Current Stimulation And Stroke Recovery: Opportunities And Challenges, Murtaza G, Hussain F, Iqbal M, Shahid Bashir

Pakistan Journal of Neurological Sciences (PJNS)

Transcranial direct current stimulation (tDCS) is one type of neuromodulation, which is an emerging technology that holds promise for the future studies on therapeutic and diagnosis applications in treatment of neurological and psychiatric diseases. However, there is a serious question among developing countries with limited financial and human resources, about the potential returns of an investment in this field and regarding the best time to transfer this technology from controlled experimental settings to health systems in the public and private sectors. This article reviews the tDCS as tools of neuromodulation for stroke and discusses the opportunities and challenges available for …

Determinants Of Neonatal Mortality In Rural And Urban Nigeria: Evidence From A Population-Based National Survey, Emmanuel O. Adewuyi, Yun Zhao

Research outputs 2014 to 2021

Background: Significant reduction in the global burden of neonatal mortality was achieved through the millennium development goals. In Nigeria, however, only a marginal reduction was realized. This study assesses the rural–urban differences in neonatal mortality rate (NMR) and the associated risk factors in Nigeria.

Methods: The dataset from the 2013 Nigeria demographic and health survey (NDHS), disaggregated by rural–urban residence (n = 20 449 and 9935, respectively), was explored using univariate, bivariate, and multivariable analysis. Complex samples analysis was applied to adjust for the unequal selection probabilities due to the multi-stage cluster sampling method used in the 2013 NDHS. The …

Functional Outcomes Of The Low Vision Depression Prevention Trial In Age-Related Macular Degeneration., Ashley D. Deemer, Robert W. Massof, Barry W. Rovner, Robin J. Casten, Catherine V. Piersol

Department of Psychiatry and Human Behavior Faculty Papers

Purpose: To compare the efficacy of behavioral activation (BA) plus low vision rehabilitation with an occupational therapist (OT-LVR) with supportive therapy (ST) on visual function in patients with age-related macular degeneration (AMD).

Methods: Single-masked, attention-controlled, randomized clinical trial with AMD patients with subsyndromal depressive symptoms (n = 188). All subjects had two outpatient low vision rehabilitation optometry visits, then were randomized to in-home BA + OT-LVR or ST. Behavioral activation is a structured behavioral treatment aiming to increase adaptive behaviors and achieve valued goals. Supportive therapy is a nondirective, psychological treatment that provides emotional support and controls for attention. Functional …

Validation Of Bioelectrical Impedance Analysis For Assessing Dry Weight Of Dialysis Patients In Pakistan, Huma Asmat, Romaina Iqbal, Fatima Sharif, Aamer Mahmood, Aamir Abbas, Waqar Kashif

Department of Medicine

Accurate dry weight estimation (DW) to achieve euvolemia is one of the key objectives of hemodialysis (HD). While conventionally DW is estimated by clinical examination, bioelectrical impedance analysis (BIA) has been proposed as an objective method to determine DW and has been tested extensively in the Western population. We aim to validate BIA for determining DW in a Pakistani population against the conventional clinician's method. This is a single-center validation study conducted at two outpatient HD units of Aga Khan Hospital, Karachi. One hundred and forty-eight DW readings of patients who were on maintenance HD were taken both by BIA …

X-Linked Agammaglobulinemia - First Case With Bruton Tyrosine Kinase Mutation From Pakistan, Samreen Kulsom Zaidi, Sonia Qureshi, Farah Naz Qamar

Department of Paediatrics and Child Health

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan.