Abstract: Primary progressive aphasia (PPA) is a neurodegenerative disease similar to frontotemporal and semantic dementia, while having a different clinical image and anatomic pathology topography. Nonetheless, they are often included under an umbrella term: frontotemporal lobar degeneration (FTLD). In the study, examples of diagnosing PPA are presented through the multidisciplinary lens of specialists from different fields (neurologists, psychiatrists, clinical speech therapists, clinical neuropsychologists and others) using a variety of diagnostic tools such as MR, PET/CT, genetic screening and neuropsychological and logopedic methods. Thanks to that, specialists can get a better and clearer understanding of PPA diagnosis. The study summarizes the concrete procedures and results of different specialists while diagnosing PPA in a patient of younger middle age and illustrates the importance of multidisciplinary approach to differential diagnosis of PPA.
Abstract: Background and Objectives: Colorectal carcinoma is increasing among both men and women worldwide. It has a multifactorial etiology including genetic factors, environmental factors and inflammatory conditions of the digestive tract. A clinicopathologic assessment of colorectal carcinoma in Hail region is done, considering any changing patterns in two 5-year periods from 2005-2009 (A) and from 2012 to 2017 (B). All data had been retrieved from histopathology files of King Khalid Hospital, Hail. Results: During period (A), 75 cases were diagnosed as colorectal carcinoma. Male patients comprised 56/75 (74.7%) of the study, with a mean age of 58.4 (36-97), while females were 19/75 (25.3%) with a mean age of 50.3(30-85) and the difference was significant (p = 0.05). M:F ratio was 2.9:1. Most common histological type was adenocarcioma in 68/75 (90.7%) patients mostly well differentiated in 44/68 (64.7%). Mucinous neoplasms comprised only 7/75 (9.3%) of cases and tended to have a higher stage (p = 0.04). During period (B), 115 cases were diagnosed with an increase of 53.3% in number of cases than period (A). Male to female ratio also decreased to 1.35:1, females being 44.83% more affected. Adenocarcinoma remained the prevalent type (93.9%), while mucinous type was still rare (5.2%). No distal metastases found at time of presentation. Localization of tumors was rectosigmoid in group (A) in 41.4%, which increased to 56.6% in group (B), with an increase of 15.2%. Iliocecal location also decreased from 8% to 3.5%, being 56.25% less. Other proximal areas of the colon were decreased by 25.75%, from 53.9% in group (A) to 40% in group (B). Conclusion: Colorectal carcinoma in Hail region has increased by 53.3% in the past 5 years, with more females being diagnosed. Localization has also shifted distally by 15.2%. These findings are different from Western world patterns which experienced a decrease in incidence and proximal shift of the colon cancer localization. This might be due to better diagnostic tools, population awareness of the disease, as well as changing of life style and/or food habits in the region.
Abstract: In both developed and developing countries, obesity among women is increasing, but in different patterns and at very different speeds. It may have a negative effect on health, leading to reduced life expectancy and/or increased health problems. This research studied the age distribution among obese women, the types of overweight and obesity, and the extent of the problem of overweight/obesity and the obesity etiological factors among women in Hillah city in central Iraq. A total of 322 overweight and obese women were included in the study, those women were randomly selected. The Body Mass Index was used as indicator for overweight/ obesity. The incidence of overweight/obesity among age groups were estimated, the etiology factors included genetic, environmental, genetic/environmental and endocrine disease. The overweight and obese women were screened for incidence of infection and/or diseases. The study found that the prevalence of 322 overweight and obese women in Hillah city in central Iraq was 19.25% and 80.78%, respectively. The obese women types were recorded based on BMI and WHO classification as class-1 obesity (29.81%), class-2 obesity (24.22%) and class-3 obesity (26.70%), the result was discrepancy non-significant, P value < 0.05. The incidence of overweight in women was high among those aged 20-29 years (90.32%), 6.45% aged 30-39 years old and 3.22% among ≥ 60 years old, while the incidence of obesity was 20.38% for those in the age group 20-29 years, 17.30% were 30-39 years, 23.84% were 40-49 years, 16.92% were 50-59 years group and 21.53% were ≥ 60 years age group. These results confirm that the age can be considered as a significant factor for obesity types (P value < 0.0001). The result also showed that the both genetic factors and environmental factors were responsible for incidents of overweight or obesity (84.78%) p value < 0.0001. The results also recorded cases of different repeated infections (skin infection, recurrent UTI and influenza), cancer, gallstones, high blood pressure, type 2 diabetes, and infertility. Weight stigma and bias generally refers to negative attitudes; Obesity can affect quality of life, and the results of this study recorded depression among overweight or obese women. This can lead to sexual problems, shame and guilt, social isolation and reduced work performance. Overweight and Obesity are real problems among women of all age groups and is associated with the risk of diseases and infection and negatively affects quality of life. This result warrants further studies into the prevalence of obesity among women in Hillah City in central Iraq and the immune response of obese women.
Abstract: Auditory hallucinations among the most invalidating
and distressing experiences reported by patients diagnosed with
schizophrenia, leading to feelings of powerlessness and helplessness
towards their illness. In more severe cases, these auditory
hallucinations can take the form of commanding voices, which are
often related to high suicidality rates in these patients. Several
authors propose that the meanings attributed to the hallucinatory
experience, rather than characteristics like form and content, can be
determinant in patients’ reactions to hallucinatory activity,
particularly in the case of voice-hearing experiences. In this study, 48
patients diagnosed with paranoid schizophrenia presenting auditory
hallucinations were studied. Multiple regression analyses were
computed to study the influence of several developmental aspects,
such as family and social dynamics, bullying, depression, and sociocognitive
variables on the auditory hallucinations, on patients’
attributions and relationships with their voices, and on the resulting
invalidation of hallucinatory experience. Overall, results showed how
relationships with voices can mirror several aspects of interpersonal
relationship with others, and how self-schemas, depression and actual
social relationships help shaping the voice-hearing experience. Early
experiences of victimization and submission help predict the
attributions of omnipotence of the voices, and increased hostility
from parents seems to increase the malevolence of the voices,
suggesting that socio-cognitive factors can significantly contribute to
the etiology and maintenance of auditory hallucinations. The
understanding of the characteristics of auditory hallucinations and the
relationships patients established with their voices can allow the
development of more promising therapeutic interventions that can be
more effective in decreasing invalidation caused by this devastating
mental illness.
Abstract: VACTERL association is a rare disorder with various
congenital malformations. The aetiology remains unknown.
Combination of at least three congenital anomalies of the following
criteria is required for diagnosis: vertebral defects, anal atresia,
cardiac anomalies, tracheo-esophageal fistula, renal anomalies, and
limb defects. The first case was 1-day old male neonate with multiple
congenital anomalies was bore from 28 years old mother. The mother
had history of pregnancy with lymphocyte therapy. His anomalies
included: defects in thoracic and lumbar vertebral, anal atresia,
bilateral hydronephrosis, atrial septal defect, and lower limb
abnormality. Other anomalies were cryptorchidism and nasal canal
narrowing. The second case was born with 32 weeks gestational age
from mother with history of pregnancy with lymphocyte therapy. He
had thoracic vertebral defect, cardiac anomalies and renal defect.
diagnosis based on clinical finding is VACTERL association. Early
diagnosis is very important to investigation and treatment of other
coexistence anomalies. VACTERL association in mothers with
history of pregnancy with lymphocyte therapy has suggested possibly
of relationship between VACTERL association and this method of
pregnancy.
Abstract: Monoamine oxidase A gene (MAOA) is suggested to
be a candidate gene implicated in many neuropsychiatric disorders,
including autism spectrum disorder (ASD). This meta-analytic review
evaluates the relationship between ASD and MAOA markers such as
30 bp variable number tandem repeats in the promoter region
(uVNTR) and single nucleotide polymorphisms (SNPs) by using
findings from recently published studies. It seems that in Caucasian
males, the risk of developing ASD increase with the presence of 4-
repeat allele in the promoter region of MAOA gene whereas no
differences were found between autistic patients and controls in
Egyptian, West Bengal and Korean population. Some studies point to
the importance of specific haplotype groups of SNPs and interaction
of MAOA with others genes (e. g. FOXP2 or SRY). The results of
existing studies are insufficient and further research is needed.
Abstract: Our study was designed to highlight changes in
certain biochemical parameters (CH, TG, HDL, GOT, GPT, LDL and
CRP), obese women infertile fertile witnesses and research potential
pathophysiological link between obesity and infertility in this
population of women. This practical work was focused on a
population of 24 obese women infertile, compared to controls,
subjects without any pathology causing disruption of parameters to
be studied to determine the contribution of obesity in the etiology of
infertility. The assay results revealed a highly significant difference
between the two groups in serum CH, TG, HDL, TGO and TGP (P
Abstract: Autism Spectrum Disorders (ASDs) are characterized
by abnormalities in social interaction and communication, as well as
repetitive and stereotyped behaviors. Although various studies have
been conducted in ASDs etiology across the world, it seems that they
are still unknown in Middle East. Some scientific researches have
been conducted on ASDs in Middle East (ME) especially in
Kingdom of Saudi Arabia (KSA).
A systematic literature review was performed to identify the ASDs
studies in KSA. Accordingly, PubMed, ISI web of Science and
Google were searched to find KSA and ME studies in ASDs. The
main focus of this review work is to outline an improved
understanding of the underpinnings of ASD in order to achieve
therapeutic interventions and we will discuss the main problem we
waiting for solution with reference with role of Transcranial
Magnetic Stimulation (TMS) to modulate cortical activity improve
understanding ASD.
Abstract: Human genome is not only the evolutionary
summation of all advantageous events, but also houses lesions of
deleterious foot prints. A single gene mutation sometimes may
express multiple consequences in numerous tissues and a linear
relationship of the genotype and the phenotype may often be obscure.
ß Thalassemia minor, a transfusion independent mild anaemia,
coupled with environment among other factors may articulate into
phenotypic pleotropy with Hypocholesterolemia, Vitamin D
deficiency, Tissue hypoxia, Hyper-parathyroidism and Psychological
alterations. Occurrence of Pancreatic insufficiency, resultant
steatorrhoea, Vitamin-D (25-OH) deficiency (13.86 ngm/ml) with
Hypocholesterolemia (85mg/dl) in a 30 years old male ß Thal-minor
patient (Hemoglobin 11mg/dl with Fetal Hemoglobin 2.10%, Hb A2
4.60% and Hb Adult 84.80% and altered Hemogram) with increased
Para thyroid hormone (62 pg/ml) & moderate Serum Ca+2
(9.5mg/ml) indicate towards a cascade of phenotypic pleotropy
where the ß Thalassemia mutation ,be it in the 5’ cap site of the
mRNA , differential splicing etc in heterozygous state is effecting
several metabolic pathways. Compensatory extramedulary
hematopoiesis may not coped up well with the stressful life style of
the young individual and increased erythropoietic stress with high
demand for cholesterol for RBC membrane synthesis may have
resulted in Hypocholesterolemia.Oxidative stress and tissue hypoxia
may have caused the pancreatic insufficiency, leading to Vitamin D
deficiency. This may in turn have caused the secondary
hyperparathyroidism to sustain serum Calcium level. Irritability and
stress intolerance of the patient was a cumulative effect of the vicious
cycle of metabolic compromises. From these findings we propose
that the metabolic deficiencies in the ß Thalassemia mutations may
be considered as the phenotypic display of the pleotropy to explain
the genetic epidemiology.
According to the recommendations from the NIH Workshop on
Gene-Environment Interplay in Common Complex Diseases: Forging
an Integrative Model, study design of observations should be
informed by gene-environment hypotheses and results of a study
(genetic diseases) should be published to inform future hypotheses.
Variety of approaches is needed to capture data on all possible
aspects, each of which is likely to contribute to the etiology of
disease. Speakers also agreed that there is a need for development of
new statistical methods and measurement tools to appraise
information that may be missed out by conventional method where
large sample size is needed to segregate considerable effect.
A meta analytic cohort study in future may bring about significant
insight on to the title comment.