Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.
Background: Animal bites in humans are an important public health problem. Most of these bites are dog bites. Dog bites in humans are a complex problem embracing public health and animal welfare, both in developed and developing nations. .
Al-kindy Col Med J Vol.8 No.2 2012 P: 151
Objectives: in order to estimate the magnitude of the problem and to understand the epidemiological characteristics of dog bite victims registered in Baghdad city regarding their age, sex, number of registered dog bite victims per month and year along the studied period ( 2006-2010) and also to sniff out any seasonal variation in dog bite attacks .
Methods: A across-sectional study was carried out during January (2011), in the Anti-Rabies clinic of (Pa
Background: Animal bites in humans are an important public health problem. Most of these bites are dog bites. Dog bites in humans are a complex problem embracing public health and animal welfare, both in developed and developing nations. .
Al-kindy Col Med J Vol.8 No.2 2012 P: 149
Objectives: in order to estimate the magnitude of the problem and to understand the epidemiological characteristics of dog bite victims registered in Baghdad city regarding their age, sex, number of registered dog bite victims per month and year along the studied period ( 2006-2010) and also to sniff out any seasonal variation in dog bite attacks .
Methods: A across-sectional study was carried out during January (2011), in the Anti-Rabies clinic of (Pa
ackground: Escherichia coli is one of the most
important bacterial pathogen that can cause several
disease to human being . In our study we try to
investigate the sensitivity resistance pattern of
Escherichia coli against three antibiotics ( Amikacin,
Nalidixic acid and Cephalexin).
Methods: For this purpose we collected 51 clinical
isolates of Escherichia coli from stool and urine of
outpatient and inpatient patients from different wards
of AL-SADER Teaching Hospital in AL-NAJAF
AL-ASHRAf, IRAQ, and tested by culture and
sensitivity test .
Results: The results appeared that Amikacin show
the highest percentage of sensitivity ( 66.66 % ) ,
while Cephalexin show the lowest percentage of
sensiti
Isolation of fungi was performed from February to July, 2019. One hundred clinical specimens were collected from King Abdullah Hospital (KAH) Bisha, Saudi Arabia. Samples were collected from twenty patients of different ages (30 - 70 years old) ten males and ten females. The samples were collected from patients with the two types of diabetics. Specimens included blood, hair, nail, oral swabs and skin. Specimens were inoculated on Sabourauds Dextrose agar containing chloramphenicol. Thirteen fungal species were isolated and identified. The isolated species were: Aspergillus flavus, A. niger, A. terrus, A. nidulans, A. fumigatus, Candida albicans, C. krusei, C. parapsilosis, C. Tropicalis, Curvularia lunata, Fusarium solani, Penicill
... Show MoreThis study was for searching for Cholera Bacteria serotype which causes epidemiology Cholera in the 2007 in a fast method which contains (Rapid Visual Test) (Crystal V.C.) which was used for the first time in Iraq to diagnosis of Cholera Bacteria & compared with the traditional bacteriology method. The Cholera disease is one of the most dangerous epidemiological diseases which lead to death with a percentage of (50 – 70) % in the severe cases for untreated patients . For this purpose, 100 samples of stool from the patients from a (13) hospitals in Baghdad Governorate in the period from August to the end of December. The Cholera was diagnosis in two methods, 1st method was the fast method using the nitrocellulose which is coated with anti-
... Show MoreBackground: Environmental chemicals are thought to
adversely affect human reproductive function.
Objective : To estimate the concentration of cadmium(Cd)
, lead ( Pb ) and Zinc ( Zn ) in serum and seminal plasma
among infertile men .
Methods: A sample of 70 infertile men was investigated.
The relationship of trace elements concentration in serum and
seminal plasma was studied in relation to sperm density,
motility and sperm count.
Results: Except for Zinc the concentration of (Pb) and (Cd)
were generally higher in serum than in seminal plasma. The
mean concentration of (Zn) in seminal plasma was more than
25 times higher than in serum There were no statistical
significant differences observed in the