This document summarizes a study that aims to determine which combinations of clinical signs observed on prenatal ultrasounds best predict a mutation in genes COL1A1 or COL1A2 that causes Osteogenesis imperfecta (OI), a genetic disorder that causes brittle bones. The study analyzes data collected from prenatal cases submitted to a collagen diagnostic lab, including ultrasound findings of signs like shortened long bones, bowed bones, and fractures, as well as the results of genetic testing. The goal is to establish guidelines for physicians to help recognize OI in fetuses and determine when genetic testing is required, in order to provide better care for affected fetuses and families.
Neuroblastomas are rare extracranial tumors of the pediatric population arising from cells of the embryological sympathetic nervous system. These malignancies most commonly occur in the abdomen, but other sites include the chest, neck, and pelvis with a predisposition for lymphatic and hematogenous
spread. Metastasis to the bone is a poor prognostic indicator, requiring surgical excision and other extensive medical management.
Chest sonography images in neonatal r.d.s. And proposed gradingiosrphr_editor
BACKGROUND : Lung sonography has been used to monitor the patients of R.D.S. in
N.I.C.U. in recent times.
AIMS : To Describe and Grade the changes of R.D.S. by lung sonography.
SETTING & DESIGN : Tertiary care institutional set up in a rural medical college.
STUDY DURATION : September 2014 to May 2015. Follow-up variable, upto 2 weeks.
PROSPECTIVE, ANALYTICAL STUDY.
MATERIALS AND METHODS -This was a single institute study approved by the institutional ethics
committee. Prior informed consent was obtained from the parents. 100 consecutive patients admitted in
N.I.C.U. WITH gestational age < 36 weeks with respiratory complaints were enrolled. Chest x-ray was
obtained within few hours of admission and lung sonography was performed within 24 hours. Follow – up
sonography was performed as and when necessary. Sonography image was graded and correlated with chest
xray and clinical picture
MOC- Radiological phenotype - genotype correlations of constitutional bone di...DrMohamedLAHKIM
Radiological phenotype - genotype correlations of constitutional bone diseases (CBD) involving the parathyroid hormone (PTH) and its signaling pathways
Pr M. LAHKIM, PHC, MD, PhD std
Analytical Study of Clinicopathological Data of Saudi Patients with Osteoarth...Prof. Hesham N. Mustafa
SUMMARY: Knee osteoarthritis (OA) is a common disabling disease. Epidemiological studies have revealed various risk
factors for OA, including sex, aging, obesity, occupational illnesses, and chronic diseases. Here we evaluate the clinical, pathological,
and radiological findings of knee OA in a subset of Saudi patients who were subjected to total knee replacement (TKA). The study
population included 30 Saudi patients with knee OA who were operated by TKA (from June 2014 to December 2015) in the Department
of Orthopedics, Faculty of Medicine, King Abdulaziz University, Saudi Arabia. Patient’s clinical and radiological data were collected
from the hospital files. Pathological examination of the excised superior articular surface of tibia and femoral condyles were done.
Pearson Chi-squared analysis was used to test for differences between the variables in associated risk factors. There were more women
than men. Sixty per cent of patients were older than 60 years [mean age, 59.2 (females) and 61.7 (men) years-old]. All patients exceeded
obesity class 1, with females being more obese than males. Pathological examination of the superior articular surface of tibia and femoral
condyles showed high score lesions, which was more apparent in females than in males. Radiological findings showed that most lesions
were high grade. The findings of this study will help to understand the pathogenesis of OA and improve treatment decision making
relevant to TKA in knee OA in Saudi Arabia and elsewhere.
KEY WORDS: Osteoarthritis; Knee; Arthroplasty.
open-globe injuries in palestinePalestine: epidemiology and factors associate...Riyad Banayot
Background: The purpose was to describe the epidemiology of open-globe injury (OGI) in Palestine and identify
the prognostic factors associated with profound visual loss.
Materia l and methods: The current study is a retrospective review of hospital files for 83 consecutive patients
with OGI who presented to St. John Eye Hospital, Jerusalem, within 5 years, between 2009 and 2013. Demographic
details included age, gender, wound characteristics, and visual acuity (VA). The Ocular Trauma Classification Group
was used for wound location, classification, and scoring for each case.
Results: We identified 83 OGI that presented to St. John eye hospital. The study group included 62 males and
21 females. The mean age was 16.66 years ± 3.216. The most frequent injuries were playground injuries (59%),
followed by workplace injuries (26.5%). Penetrating injuries represented 45.8% of injuries, and rupture globes
occurred in 39.8% of cases. The most frequent objects causing injury were metal (31.3%) and stone (20.5%). Kinetic
impact projectiles were a statistically significant poor prognostic factor for the visual outcome. Variables that
were statistically significant poor prognostic factors for visual outcome included: retinal detachment, macular scar,
vitreous hemorrhage.
Conclusi on: This study showed that the act of demonstration, street injuries, kinetic impact projectiles, zone III
injuries, globe disruption, retinal detachment, vitreous hemorrhage, and a poor VA at the first visit are poor prognostic
factors for OGI. Recognition of these prognostic factors will help the ophthalmologist evaluate the injury
and its prognosis.
Neuroblastomas are rare extracranial tumors of the pediatric population arising from cells of the embryological sympathetic nervous system. These malignancies most commonly occur in the abdomen, but other sites include the chest, neck, and pelvis with a predisposition for lymphatic and hematogenous
spread. Metastasis to the bone is a poor prognostic indicator, requiring surgical excision and other extensive medical management.
Chest sonography images in neonatal r.d.s. And proposed gradingiosrphr_editor
BACKGROUND : Lung sonography has been used to monitor the patients of R.D.S. in
N.I.C.U. in recent times.
AIMS : To Describe and Grade the changes of R.D.S. by lung sonography.
SETTING & DESIGN : Tertiary care institutional set up in a rural medical college.
STUDY DURATION : September 2014 to May 2015. Follow-up variable, upto 2 weeks.
PROSPECTIVE, ANALYTICAL STUDY.
MATERIALS AND METHODS -This was a single institute study approved by the institutional ethics
committee. Prior informed consent was obtained from the parents. 100 consecutive patients admitted in
N.I.C.U. WITH gestational age < 36 weeks with respiratory complaints were enrolled. Chest x-ray was
obtained within few hours of admission and lung sonography was performed within 24 hours. Follow – up
sonography was performed as and when necessary. Sonography image was graded and correlated with chest
xray and clinical picture
MOC- Radiological phenotype - genotype correlations of constitutional bone di...DrMohamedLAHKIM
Radiological phenotype - genotype correlations of constitutional bone diseases (CBD) involving the parathyroid hormone (PTH) and its signaling pathways
Pr M. LAHKIM, PHC, MD, PhD std
Analytical Study of Clinicopathological Data of Saudi Patients with Osteoarth...Prof. Hesham N. Mustafa
SUMMARY: Knee osteoarthritis (OA) is a common disabling disease. Epidemiological studies have revealed various risk
factors for OA, including sex, aging, obesity, occupational illnesses, and chronic diseases. Here we evaluate the clinical, pathological,
and radiological findings of knee OA in a subset of Saudi patients who were subjected to total knee replacement (TKA). The study
population included 30 Saudi patients with knee OA who were operated by TKA (from June 2014 to December 2015) in the Department
of Orthopedics, Faculty of Medicine, King Abdulaziz University, Saudi Arabia. Patient’s clinical and radiological data were collected
from the hospital files. Pathological examination of the excised superior articular surface of tibia and femoral condyles were done.
Pearson Chi-squared analysis was used to test for differences between the variables in associated risk factors. There were more women
than men. Sixty per cent of patients were older than 60 years [mean age, 59.2 (females) and 61.7 (men) years-old]. All patients exceeded
obesity class 1, with females being more obese than males. Pathological examination of the superior articular surface of tibia and femoral
condyles showed high score lesions, which was more apparent in females than in males. Radiological findings showed that most lesions
were high grade. The findings of this study will help to understand the pathogenesis of OA and improve treatment decision making
relevant to TKA in knee OA in Saudi Arabia and elsewhere.
KEY WORDS: Osteoarthritis; Knee; Arthroplasty.
open-globe injuries in palestinePalestine: epidemiology and factors associate...Riyad Banayot
Background: The purpose was to describe the epidemiology of open-globe injury (OGI) in Palestine and identify
the prognostic factors associated with profound visual loss.
Materia l and methods: The current study is a retrospective review of hospital files for 83 consecutive patients
with OGI who presented to St. John Eye Hospital, Jerusalem, within 5 years, between 2009 and 2013. Demographic
details included age, gender, wound characteristics, and visual acuity (VA). The Ocular Trauma Classification Group
was used for wound location, classification, and scoring for each case.
Results: We identified 83 OGI that presented to St. John eye hospital. The study group included 62 males and
21 females. The mean age was 16.66 years ± 3.216. The most frequent injuries were playground injuries (59%),
followed by workplace injuries (26.5%). Penetrating injuries represented 45.8% of injuries, and rupture globes
occurred in 39.8% of cases. The most frequent objects causing injury were metal (31.3%) and stone (20.5%). Kinetic
impact projectiles were a statistically significant poor prognostic factor for the visual outcome. Variables that
were statistically significant poor prognostic factors for visual outcome included: retinal detachment, macular scar,
vitreous hemorrhage.
Conclusi on: This study showed that the act of demonstration, street injuries, kinetic impact projectiles, zone III
injuries, globe disruption, retinal detachment, vitreous hemorrhage, and a poor VA at the first visit are poor prognostic
factors for OGI. Recognition of these prognostic factors will help the ophthalmologist evaluate the injury
and its prognosis.
Prevalence of Congenital Malformations in Newborns Delivered in a Rural Medic...iosrjce
IOSR Journal of Dental and Medical Sciences is one of the speciality Journal in Dental Science and Medical Science published by International Organization of Scientific Research (IOSR). The Journal publishes papers of the highest scientific merit and widest possible scope work in all areas related to medical and dental science. The Journal welcome review articles, leading medical and clinical research articles, technical notes, case reports and others.
Estimation of age from spheno-occipital synchondrosis closure using computed tomography in Yemen
Usama M. Ibrahim El-Barrany, Manal Mohy El din Ismail, Mohamed Adly Mohamed and Mokhtar Ahmed Alhrani*
Forensic Medicine & Clinical Toxicology Department,
Faculty of Medicine, Cairo University and
*MSc in Forensic Medicine & Clinical Toxicology
ABSTRACT
Background: The spheno-occipital synchondrosis was chosen as an age marker of interest since past researches suggested that there is considerable variation in the time of closure which required further investigation. In order to obtain the most accurate estimations of age population specific data are required.
Objective: The aim of the present study was to determine the chronology and pattern of union of the spheno-occipital synchondrosis among Yemeni subjects using CT scanning to assess if this age marker is a useful tool for age estimation.
Subjects and Methods: In this cross-sectional study, a sample of 217 subjects of both sexes whose ages ranged between 15 and 25 years was examined. The studied group was formed of 121 males and 96 females. The state of fusion of the SOS or basilar synchondrosis was examined as a biological age indicator using a high resolution multi-slice CT scans of the head.
Results: Mean ages of open, semi-closed, closed sutures with scar and closed sutures without scar were 16, 18, 21.32 and 21.78 years in males, and 15, 20, 21.56 and 20.41 in females, respectively. Complete fusion was seen at 16 years old or above in males and 15 years old or above in females. Spearman’s correlation ratio coefficient showed a linear correlation between age and suture situation in both sexes (p<0.000* for both and rho = 0.509 & 0.080 for males and females, respectively).
Conclusion: Our findings indicated that the stage of fusion of the spheno-occipital synchondrosis using computed tomography could be a useful forensic tool to determine age in both sexes in Yemen population.
Key Words: Age estimation, Spheno-occipital Synchondrosis, Computed Tomography, Yemen.
1. Does ultrasound identification of in-utero fractures predict Osteogensis
imperfecta?
Maryam Rahmani1,2
, Melanie Pepin2
, Dr. Peter H. Byers2
1
University of Washington GenOM Project, 2
University of Washington Department of Pathology
Osteogenesis imperfecta (OI) is an inherited brittle bone disorder that varies in clinical severity
from mild to lethal forms. The mutation generally occurs in type one collagen genes (COL1A1
and COL1A2), and it can be confirmed by molecular testing. The goal of this project is to
discover which combinations of clinical signs of Osteogenesis imperfecta are most likely to yield
positive results for a mutation in COL1A1 or COL1A2, and to develop guidelines which could
be used by physicians when diagnosing OI with in-utero fetuses. The data for this study was
collected from in-utero cases submitted to the University of Washington Collagen Diagnostic
Lab from around the world. In this study, I tabulated the multiple signs of OI from patient data
organized by the signs shown on ultrasounds previous to genetic testing (ex: shortened long
bones, bowed bones, multiple fractures, etc.), and the results of genetic testing. With this
information, it will be easier for doctors and genetic counselors to recognize cases of OI in
fetuses and determine when the appropriate genetic testing is required. The findings in this study
will make it easier for care to be administered to the fetuses and family members dealing with
Osteogenesis imperfecta.