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2019| January-April | Volume 7 | Issue 1
Online since
December 14, 2018
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ORIGINAL ARTICLES
Mutation frequencies in endometrial cancer patients of different ethnicities and tumor grades: An analytical study
Mohammad A Althubiti
January-April 2019, 7(1):16-21
DOI
:10.4103/sjmms.sjmms_154_18
PMID
:30787852
Background:
Endometrial carcinoma is a predominant health problem for women worldwide. However, there is a lack of data on genetic mutation frequencies in endometrial cancer patients of different ethnicities and tumor grades.
Objective:
The objective of this study is to provide data regarding mutation frequencies in endometrial cancer patients of different ethnic groups and tumor grades by analyzing large-scale cancer genomic datasets of a database.
Materials and Methods:
The following databases of cBioPortal were explored for possible mutation frequency variations in endometrial cancer patients: the Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) database for ethnicity-based studies; the Uterine Corpus Endometrial Carcinoma (TCGA, Nature 2013) database for tumor grade-based study; and GDC Data Portal database for calculating survival rates using the Kaplan–Meier method.
Results:
PTEN
mutation frequency was almost identical in all ethnic groups studied (White, Black/African American, Asian, Native Hawaiian or other Pacific Islander, and American Indian or Asian Native).
PIK3CA
and
ARID1A
mutation frequencies were higher in White and Asian patients compared with other ethnicities;
TP53
and
FAT1
mutation frequencies were higher in Black/African Americans; and
CTNNB1
and
RYR2
mutation frequencies were higher Native Hawaiians or Asian Natives.
TTN
mutation frequency was lower in Asian patients. With regards to mutation frequencies at different tumor stages, in all genes, >50% of the mutations occurred during the first stage, except in
TP53
and
POLQ
. In terms of prognosis in endometrial cancer considering the 10 most frequently mutated genes,
PIK3CA
and
ARID1A
mutations were correlated with good prognosis, whereas
TP53
and
PIK3R1
mutations were correlated with poor prognosis; mutations in all other genes did not show significant differences.
Conclusion:
This study revealed a new mutation frequency profile for different ethnicities and tumor grades in endometrial cancer patients. However, because this is a retrospective study, future prospective studies should be conducted including large sample sizes and more controlled measurements.
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14
Knowledge and attitude regarding toxoplasmosis among Jazan University female students
Mohamed S Mahfouz, Mona Elmahdy, Ahmed Bahri, Yara Mohammed Mobarki, Atheer Ali Altalhi, Norah Abdullah Barkat, Halimah Abdullah Al-Essa, Asmaa Hussein Ageely, Nesrin Ahmed Faqeeh, Nuha Abker Areeshi, Salma Mohammed Al-Hassan
January-April 2019, 7(1):28-32
DOI
:10.4103/sjmms.sjmms_33_17
PMID
:30787854
Background:
In Saudi Arabia, the prevalence of toxoplasmosis is high. However, to date, few studies have evaluated the degree of knowledge on toxoplasmosis among females in Saudi Arabia.
Objectives:
The objective of this study was to assess the knowledge, attitude and preventive behavior regarding toxoplasmosis among female students at Jazan University, Jazan, southwest Saudi Arabia.
Materials and Methods:
This cross-sectional study was conducted on a random sample of 440 female students at Jazan University using a semi-structured, self-administered questionnaire. Data with numerical/qualitative variables were expressed as frequency and percentage. Chi-square test was used to analyze categorical variables.
P
< 0.05 was used to indicate statistical significance.
Results:
This study found that more than three-quarters (79.1%) of the students had insufficient knowledge about toxoplasmosis. Students from healthcare faculties had higher knowledge scores (28.5%) than students from arts and humanities (20.6%) and science (18.9%) faculties; however, the differences were not statistically significant (
P
= 0.77). The majority of the studied sample (92.3%) was found to eat fast food on a regular basis. About 42%, 54% and 4% of the respondents reported that they never, occasionally and always ate improperly washed vegetables, respectively.
Conclusions:
This study found that a substantial proportion of Jazan University's female students have insufficient knowledge on toxoplasmosis. Health educational programs are necessary to increase the awareness and knowledge about toxoplasmosis and its clinical manifestations.
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7
Characteristics of nonaccidental fractures in abused children in Riyadh, Saudi Arabia
Ayman Hussain Jawadi, Mohammed Benmeakel, Moath Alkathiri, Maha A Almuneef, Winnie Philip, Manal Almuntaser
January-April 2019, 7(1):9-15
DOI
:10.4103/sjmms.sjmms_12_18
PMID
:30787851
Background:
Child abuse is a major problem globally. Nonaccidental fractures are the second most common injury among physically abused children; however, there is a lack of studies describing the characteristics of nonaccidental fractures in Saudi Arabia.
Objectives:
The objective of this study was to determine the characteristics of nonaccidental fractures among abused children in Riyadh, Saudi Arabia, using radiography.
Materials and Methods:
This retrospective study analyzed the data and radiographs of all nonaccidental fracture cases in children (aged ≤14 years) registered in the National Family Safety Program Registry at King Abdulaziz Medical City, Riyadh, between 2009 and 2015.
Results:
A total of 1512 cases of child abuse were found in the National Family Safety Program Registry database from Riyadh city. From these, 103 fractures were identified; however, radiographs were available for only 70 fractures from 56 children. Of these, 33 (59%) were boys, and 25 (45%) were aged 1–5 years. In terms of the type of abuse, neglect was more common than physical abuse (52% vs. 45%). History of injury was identified in 75% (42) of the cases, of which fall accounted for about 55% (23). Nearly 79% of children presented with a single bone fracture, while 21% had multiple bone fractures. The most common sites of fractures were skull (40%), upper limbs (31%) and lower limbs (29%). The most common fracture pattern was transverse fractures (48%), and it was mainly diagnosed in skull fractures (51%).
Conclusions:
This study found that in Riyadh, Saudi Arabia, neglect is the most common cause of nonaccidental fractures, abusive head trauma is the most commonly associated injury and transverse fracture is the primary pattern of fracture in abused children. Notably, as most children experienced a single-bone fracture, the authors recommend clinicians to lower their threshold of considering abuse even in cases with an isolated fracture.
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4,815
605
6
REVIEW ARTICLE
Epigenetic transmission of maternal behavior: Impact on the neurobiological system of healthy mothers
Alya Elmadih, Mahdi Abumadini
January-April 2019, 7(1):3-8
DOI
:10.4103/sjmms.sjmms_163_17
PMID
:30787850
Quality of maternal caregiving not only impacts children's development but can also result in heritable changes in gene expression (i.e., in an epigenetic manner). Consequently, when women become mothers, they adopt parenting behavior similar to that they received at family of origin. This transgenerational transmission of maternal behavior may also be associated with changes in the neurobiological system of future mothers. This review aims to highlight the effect quality of perceived parenting has on maternal behavior and the neurobiological system of mothers, specifically the oxytocin system, brain morphology and brain function. This would likely help in finding biomarkers that profile the impact of perceived parenting on mothers, and thus allow identification of mothers who experience poor-quality parenting for intervention.
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1
EDITORIAL
Healthy parenting in the age of the genome: Nature or nurture?
Saoud Sultan
January-April 2019, 7(1):1-2
DOI
:10.4103/sjmms.sjmms_242_18
PMID
:30787849
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ORIGINAL ARTICLES
Low back pain among workers in a paint factory
Abdulrazag H Al-Salameen, Hassan A Abugad, Sultan T Al-Otaibi
January-April 2019, 7(1):33-39
DOI
:10.4103/sjmms.sjmms_81_17
PMID
:30787855
Background:
Back pain is common among factory workers and is responsible for about 25% of workers' compensation cases. However, data on back pain among workers from paint industry in Saudi Arabia are limited.
Objectives:
The objective of this study is to estimate the prevalence of low back pain and to evaluate the associated risk factors among workers of a paint factory.
Materials and Methods:
This cross-sectional study used a self-administered questionnaire to elicit data regarding demography, job characteristics and prevalence of low back pain in the past 12 months among workers of a paint factory (
n
= 102) in the Eastern Province of Saudi Arabia. In addition, a scale of low back pain risk was generated for each department by occupational health professionals using interviews and observations.
Results:
The annual prevalence of low back pain was 44.1%, and it was more common among Saudi workers (67.9%) compared with non-Saudi workers (35.1%). Multivariate analysis indicated significant associations between low back pain and nationality (relative risk [RR] = 1.93; 95% confidence interval [CI] = 1.29–2.88), smoking (RR = 1.85; 95% CI = 1.20–2.83) and aerobic exercise (RR = 2.37; 95% CI = 1.19–4.71). Spearman rank correlation showed correlation between the symptom pain scale and smoking (
r
s
= 0.259;
P
= 0.008), and exercise was associated with lower pain scale scores (
r
s
= −0.241,
P
= 0.015).
Conclusion:
This study found that low back pain is common among paint factory workers in the Eastern Province of Saudi Arabia. Nationality and smoking are risk factors for low back pain and are associated with each other. Many workers did not exercise, and lack of exercise was associated with an increased risk of low back pain. Reducing smoking and increasing exercise in addition to workplace ergonomic intervention may reduce this frequently occurring problem.
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3,857
522
4
Renal histology in diabetic patients
Yassir Zajjari, Taoufiq Aatif, Kawtar Hassani, Sanaa Benbria, Driss El Kabbaj
January-April 2019, 7(1):22-27
DOI
:10.4103/sjmms.sjmms_76_18
PMID
:30787853
Background:
The diagnosis of diabetic nephropathy is based on the course of clinical manifestations and renal biopsy. Renal biopsy is usually performed in patients with atypical presentations.
Objectives:
This study was performed to analyze various renal histopathological lesions in diabetic patients and to establish a clinicopathological correlation.
Materials and Methods:
In this retrospective study, the authors analyzed renal histology of 40 patients with type 2 diabetes mellitus who presented with atypical features of diabetic renal involvement and underwent renal biopsy at the Military Hospital Mohammed V, Rabat, Morocco, between January 2008 and December 2016.
Results:
About 60% of the patients had isolated diabetic nephropathy, 35% had isolated nondiabetic renal diseases and 5% had both. Patients with nondiabetic renal diseases had significantly higher hematuria (
P
= 0.02), shorter duration of diabetes (
P
= 0.009), higher mean estimated glomerular filtration rate (
P
= 0.04) and lower prevalence of diabetic retinopathy (
P
< 0.001). The most common histological lesion in patients with nondiabetic renal diseases was IgA nephropathy (25%). In patients with diabetic nephropathy, the most common histological class was Class III (42.3%). Furthermore, higher histological classes were associated with lower estimated glomerular filtration rate (
P
< 0.001) as well as higher prevalence of diabetic retinopathy (
P
= 0.009) and nephrotic proteinuria (
P
= 0.04).
Conclusions:
This study found that in Rabat, Morocco, the most common histopathological lesion in patients with diabetes was diabetic nephropathy. Hematuria, shorter duration of diabetes, higher mean estimated glomerular filtration rate and lower prevalence of diabetic retinopathy were reported among those with nondiabetic renal diseases. These findings are in accord with that of studies from other countries. However, large sample size and long-term follow-up clinical studies are needed to demonstrate the renal pathological implications and renal outcomes in type 2 diabetes mellitus patients with renal involvement.
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3,696
502
2
CASE REPORTS
Visceral leishmaniasis and glomerulonephritis: A case report
Marwan Jabr Alwazzeh, Zaki Hajji Alhashimalsayed
January-April 2019, 7(1):40-43
DOI
:10.4103/sjmms.sjmms_166_16
PMID
:30787856
Visceral leishmaniasis is an endemic in the southwestern region of Saudi Arabia, with a low incidence rate. Clinical presentations of visceral leishmaniasis include recurrent fever, substantial weight loss, hepatosplenomegaly and anemia. However, the clinical features may not be easily evident owing to the involvement of multiple organs. This, in turn, can cause difficulties in establishing the correct diagnosis, and subsequently, in managing the patient. Here, the authors report a case of a 42-year-old male from Jizan, southwestern Saudi Arabia, who presented with impaired renal function. After kidney biopsy, the patient was diagnosed with glomerulonephritis of unknown etiology and treated with mycophenolate and prednisone. After 3 months, the patient developed high fever with hepatomegaly and pancytopenia. Based on the investigations, a possible diagnosis of visceral leishmaniasis was considered. Accordingly, he was treated with liposomal amphotericin B, following which his condition improved significantly. This case report discusses the relationship between glomerulonephritis and visceral leishmaniasis and focuses on the potential consequences of glomerulonephritis management without investigating the etiology of the underlying diseases, especially in patients from tropical and subtropical areas.
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3,391
388
1
Atypical presentation of pigmented villonodular synovitis: A case report
Mohammed A AlDakhil, Abdulaziz M AlDakhil, Moyassar M Karami, Mohammed B Satti
January-April 2019, 7(1):44-46
DOI
:10.4103/sjmms.sjmms_180_16
PMID
:30787857
Pigmented villonodular synovitis is a rare, disabling disease that usually presents in young adults. Here, the authors present a unique case of pigmented villonodular synovitis in a 60-year-old female diagnosed 20 years after the initial presentation. The patient presented with a complaint of knee pain consistent with osteoarthritis. Radiological investigations, including magnetic resonance imaging, only showed degenerative changes and were inconclusive to diagnose pigmented villonodular synovitis. Intraoperative macroscopic features of the synovium suggested pigmented villonodular synovitis, which was confirmed by histopathological examination. Histopathological examination, despite being the gold standard, was performed late in this case. The authors recommend histopathological confirmation of pigmented villonodular synovitis in all suspected cases, even with inconclusive radiological manifestations.
[ABSTRACT]
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Intralesional triamcinolone for treating mandibular langerhans cell histiocytosis: A case report and literature review
Ahmed Almuzayyen, Wahbi Elhassan, Mousa Alabbadi
January-April 2019, 7(1):47-50
DOI
:10.4103/sjmms.sjmms_84_17
PMID
:30787858
Langerhans cell histiocytosis is a rare condition ranging in manifestation from a focal boney lesion to multisystem involvement. Several treatment modalities have been proposed including curettage, low-dose radiotherapy, chemotherapy and intralesional injection of corticosteroids. These treatment options can be used as a single or combined approach. Prognosis depends on the extent of systemic involvement, and solitary lesions respond favorable to treatment. Here, the authors report a case of a 10-year-old male patient with Langerhans cell histiocytosis affecting his right posterior mandible that was successfully treated with intralesional injection of triamcinolone in multiple sessions. Complete recovery was confirmed clinically and radiographically in 18 months from the time of diagnosis.
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2
LETTERS TO THE EDITOR
Seronegative myasthenia gravis in association with human T-lymphotropic virus type 1 and hepatitis C
Saad Muhammad Amin, Randy K Ramcharitar, Guha Venketraman, Asra Tanwir
January-April 2019, 7(1):53-54
DOI
:10.4103/sjmms.sjmms_118_18
PMID
:30787860
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2,571
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1
IMAGE QUIZ
Splenomegaly and pancytopenia in an elderly male
Nada J Aldossary, Abrar J Alwaheed
January-April 2019, 7(1):55-59
DOI
:10.4103/sjmms.sjmms_234_18
PMID
:30787861
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2,323
425
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LETTERS TO THE EDITOR
Acquired protein S deficiency in a patient with lupus nephritis
Hajji Meriam, Beji Soumaya, Rais Lamia, Zouaghi Mohammed Karim
January-April 2019, 7(1):51-52
DOI
:10.4103/sjmms.sjmms_22_17
PMID
:30787859
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