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Browsing Pediatrics and Adolescent Medicine - Faculty Publications by Title

Now showing items 1-20 of 321

A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis

Almawi W.Y.; Tamim H.; Kreidy R.; Timson G.; Rahal E.; Nabulsi M.; Finan R.R.; Irani-Hakime N. (DORDRECHTVAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS, 2005)

Background: Insofar as the inherited prothrombotic single nucleotide polymorphisms (SNPs) factor V G1691A (FV-Leiden), prothrombin (PRT) G20210A, and methylenetetrahydrofolate reductase (MTHFR), C677T are inherited risk ...
A case of pitt-hopkins syndrome with absence of hyperventilation

Inati A.; Abbas H.A.; Korjian S.; Daaboul Y.; Harajeily M.; Saab R. (THOUSAND OAKS2455 TELLER RD, THOUSAND OAKS, CA 91320 USA, 2013)

Pitt-Hopkins syndrome is characterized by mental retardation, hyperventilation, and dysmorphic features due to TCF4 mutations. We report a case of Pitt-Hopkins syndrome in a 21-2-year-old boy presenting with psychomotor ...
A complex breastfeeding promotion and support intervention in a developing country: Study protocol for a randomized clinical trial

Nabulsi M.; Hamadeh H.; Tamim H.; Kabakian T.; Charafeddine L.; Yehya N.; Sinno D.; Sidani S. (LONDON236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND, 2014)

Background: Breastfeeding has countless benefits to mothers, children and community at large, especially in developing countries. Studies from Lebanon report disappointingly low breastfeeding exclusivity and continuation ...
A dose-escalation phase IIa study of 2,2-dimethylbutyrate (HQK-1001), an oral fetal globin inducer, in sickle cell disease

Kutlar A.; Reid M.E.; Inati A.; Taher A.T.; Abboud M.R.; El-Beshlawy A.; Buchanan G.R.; Smith H.; Ataga K.I.; Perrine S.P.; Ghalie R. (HOBOKEN111 RIVER ST, HOBOKEN 07030-5774, NJ USA, 2013)

2,2-dimethylbutyrate (HQK-1001), an orally-bioavailable promoter-targeted fetal globin gene-inducing agent, was evaluated in an open-label, randomized dose-escalation study in 52 subjects with hemoglobin SS or S-β0 ...
A Grid to Assess the Nutritional Status of Low-Birth-Weight Infants in the Neonatal Period

Mounla N. (NEW YORK333 SEVENTH AVE, NEW YORK, NY 10001 USA, 2004)

Growth curves of low-birth-weight infants updated over the past 50 years accept many exclusions and do not provide a standard way to assess the nutritional status of these infants regardless of their diseases in the neonatal ...
A lebanese family with auto somal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: Is OAV a genetically heterogeneous disorder?

Farra C.; Yunis K.; Yazbeck N.; Majdalani M.; Charafeddine L.; Wakim R.; Awwad J. (, 2011)

Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, ...
A Man with Shoulder Twitching

Passaro E.A.; Beydoun A. (Elsevier Inc.; SAN DIEGO525 B STREET, SUITE 1900, SAN DIEGO, CA 92101-4495 USA, 2008)

This chapter presents the case of a man diagnosed with Epilepsia partialis continua (EPC) involving the left deltoid muscle. The unusual features of this patient's left shoulder twitching raised the possibility that this ...
A Multinational Study to Establish the Value of Early Adenosine Technetium-99m Sestamibi Myocardial Perfusion Imaging in Identifying a Low-Risk Group for Early Hospital Discharge After Acute Myocardial Infarction

Mahmarian J.J.; Shaw L.J.; Filipchuk N.G.; Dakik H.A.; Iskander S.S.; Ruddy T.D.; Henzlova M.J.; Keng F.; Allam A.; Moye L.A.; Pratt C.M. (NEW YORK360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA, 2006)

Objectives: The purpose of this study was to determine whether gated adenosine Tc-99m sestamibi single-photon emission computed tomography (ADSPECT) could accurately define risk and thereby guide therapeutic decision making ...
A novel genotype c.1228CG-c.1448C-1498C (L371V-Rec-NciI) in a 3-year-old child with type 1 Gaucher disease

Yassin N.A.; Muwakkit S.A.; Ibrahim A.O.; Kayim I.M.; Habbal M.-Z.M.; Chamseddine N.M.; Musallam K.M.; Shamseddine A.I. (HEIDELBERGTIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY, 2008)

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, resulting from a deficiency of the enzyme glucocerebrosidase, causing an accumulation of the glycolipid glucocerebroside within lysosomes of ...
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

Chou J.; Hanna-Wakim R.; Tirosh I.; Kane J.; Fraulino D.; Lee Y.N.; Ghanem S.; Mahfouz I.; Megarbane A.; Lefranc G.; Inati A.; Dbaibo G.; Giliani S.; Notarangelo L.D.; Geha R.S.; Massaad M.J. (NEW YORK360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA, 2012)

[No abstract available]
A novel mutation in FOXN1 resulting in SCID: A case report and literature review

Chou J.; Massaad M.J.; Wakim R.H.; Bainter W.; Dbaibo G.; Geha R.S. (Academic Press Inc.; SAN DIEGO525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA, 2014)

[No abstract available]
A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype

Sanjad S.A.; Hariri A.; Habbal Z.M.; Lifton R.P. (NEW YORK233 SPRING STREET, NEW YORK, NY 10013 USA, 2007)

Familial hypomagnesemic hypercalciuria and nephrocalcinosis (FHHNC [MIM 248250]) is a rare renal tubular disorder characterized by impaired reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop ...
A patient with duplication (7)(p22.1pter) characterized by array-CGH

Zahed L.; Pramparo T.; Farra C.; Mikati M.; Zuffardi O. (HOBOKENDIV JOHN WILEY and SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USA, 2007)

Approximately 40 patients with terminal duplication of the distal short arm of chromosome 7 have been reported, the smallest being dup(7)(p21). We report here on a patient with a smaller duplication, dup(7)(p22.1), detected ...
A reappraisal of the clinical efficacy of nebulized flunisolide in pediatric asthma: The Italian experience

Kantar A.; Mroueh S.; Fiocchi A. (PROVIDENCE95 PITMAN ST, PROVIDENCE, RI 02906 USA, 2007)

Flunisolide (FLU) is a synthetic corticosteroid with potent topical anti-inflammatory activity. Its oral bioavailability is poor (6.7percent). After gastrointestinal and lung absorption, the drug undergoes rapid and extensive ...
A suggested clinical score to predict the severity of adenoid obstruction in children

Bitar M.A.; Rahi A.; Khalifeh M.; Madanat L.-M.S. (NEW YORK233 SPRING STREET, NEW YORK, NY 10013 USA, 2006)

Chronic nasal obstruction in children is a very common disorder. Obstructing adenoid is usually the first to blame. Though the clinical assessment is essential, it is often considered unreliable or insufficient. We conducted ...
A three-week-old preterm female infant with abdominal distension

Mounla N. (RIYADHPUBLICATIONS OFFICE PO BOX 3354, RIYADH 11211, SAUDI ARABIA, 2006)

[No abstract available]
Abdominal complications of chemotherapy in pediatric malignancies: imaging findings

Khoury N.J.; Kanj V.; Abboud M.; Muwakkit S.; Birjawi G.A.; Haddad M.C. (NEW YORK360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA, 2009)

Objective: To describe the imaging findings of abdominal complications caused by chemotherapy in pediatric cancer patients. Subjects and Methods: Radiology studies of 243 patients treated in our Children Cancer Center were ...
Absence of NOTCH2 and Hey2 mutations in a familial alagille syndrome case with a novel frameshift mutation in JAG1

El-Rassy I.; Bou-Abdallah J.; Al-Ghadban S.; Bitar F.; Nemer G. (HOBOKENDIV JOHN WILEY and SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USA, 2008)

[No abstract available]
Activated protein C attenuates acute lung injury and apoptosis in a hyperoxic animal model

Husari A.W.; Khayat A.; Awdeh H.; Hatoum H.; Nasser M.; Mroueh S.M.; Zaatari G.; El-Sabban M.; Dbaibo G.S. (PHILADELPHIA530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA, 2010)

Evidence suggests that activated protein C (APC) attenuates acute lung injury (ALI) through antithrombotic and anti-inflammatory mechanisms. The aim of this study was to determine the effects of APC on ALI in adult rats ...
Addition of ketamine to propofol for initiation of procedural anesthesia in children reduces propofol consumption and preserves hemodynamic stability

Aouad M.T.; Moussa A.R.; Dagher C.M.; Muwakkit S.A.; Jabbour-Khoury S.I.; Zbeidy R.A.; Abboud M.R.; Kanazi G.E. (OXFORD9600 GARSINGTON RD, OXFORD OX4 2DQ, OXON, ENGLAND, 2008)

Background: There is no ideal anesthesia protocol to perform short invasive procedures in pediatric oncology. The combination of propofol and ketamine may offer advantages over propofol alone. Methods: In a prospective, ...

Now showing items 1-20 of 321

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Browsing Pediatrics and Adolescent Medicine - Faculty Publications by Title

Browsing Pediatrics and Adolescent Medicine - Faculty Publications by Title

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