Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.
Background Molluscum contagiosum is skin disease caused by the molluscum contagiosum virus (MCV) usually causing one or more small dome shaped umbilicated papules with symptoms that maybe self-resolve. MCV was once a disease primarily of children, but it has evolved to become a sexually transmitted disease in adults. It is believed to be a member of the pox virus family. In addition to the classic presentation of the disease; it can also come in different clinical forms that simulate large number of dermatolological disease.
Objective: To study different clinical forms of Molluscum contagiosum presentation in different age groups of Iraqi patients.
Method:This clinical descriptive study was performed in the outpatient department of
Purpose: This study aimed to compare the stability and marginal bone loss of implants inserted with flapped and flapless approaches 8 weeks after surgery and 3 months after loading. Material and Methods: Thirty SLActive implants were inserted in 11 patients and early loaded with final restoration 8 weeks after healing period. The stability values determined by Osstell and the marginal bone loss measured by CBCT at the initial time (1st) and 8 weeks of the healing period (2nd) and 3 months after loading (3rd). Results: The overall survival rate was 100%. A significant increase in the 3rd implant stability value in the age of ˂ 40. A significant decrease in the 2nd implant stability value in both gender and traumatic zone with a flapless app
... Show MoreThis research aims to identify the following :
- The reading willingness skill to kindergarten children.
- There is no statistical significance difference between average scores of reading willingness skill of the sample individuals as a whole, and the hypothetical average of the scale.
- The difference in reading willingness skill to kindergarten children according to gender variable (male & female).
- There is no statistical significance difference between average scores of reading willingness skill for kindergarten children according to gender variable (male & female).
To achieve the research goals, the researc
... Show MoreObjectives: In order to highlight the TSH and thyroid hormones levels in preeclamptic and healthy pregnant
women.
Methodology: Ninety patients with preeclampsia were divided into two groups according to the severity of
disease; those with mild disease (37 patients) and those with a severe form (53 patients). A separate group of 30
normal women were included as a normal control group. Venus blood samples were collected from all groups
and the serum was obtained for hormone analysis by ELISA test. Results are expressed using SPSS for window
version 11.0.
Results: Mean serum TSH levels were significantly increased in both of mild and severe preeclampsia compared
with normal pregnancy, and T3 serum level showed a sign
Tuberculosis continues to be the leading cause of morbidity and mortality, with an estimated annual incidence of 10.4 million worldwide. It has been estimated that 10% of patients with extrapulmonary tuberculosis have musculoskeletal involvement, with the spine being the most common. Spinal tuberculosis (TB) accounts for 50% of cases of musculoskeletal tuberculosis.
Spinal tuberculosis is the result of infection with Mycobacterium tuberculosis. It is a secondary infection, the primary lesion of which is in the lungs, genitourinary system, or gastrointestinal tract and can be active or latent. Involvement of the vertebral segment is the result of hematogenous spread of infection along the arterial pathway or Batson's vei
... Show MoreAbstract:
Robust statistics Known as, resistance to errors caused by deviation from the stability hypotheses of the statistical operations (Reasonable, Approximately Met, Asymptotically Unbiased, Reasonably Small Bias, Efficient ) in the data selected in a wide range of probability distributions whether they follow a normal distribution or a mixture of other distributions deviations different standard .
power spectrum function lead to, President role in the analysis of Stationary random processes, form stable random variables organized according to time, may be discrete random variables or continuous. It can be described by measuring its total capacity as function in frequency.
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... Show MoreThe environment and the placesthat prince Faisal Bin AL-Husein influenced his childhood ,
behaviourand future . his expereence in his early life in leading the battles and
arabRevoluionenriched him . inspite of his short periedand harsh experience of leadersmp.
he gained an experienencein ruling iraqadter 1921 . The Syrian experiencetaught him how to
deal with the strong and establish the government as he beliered in the slogan: independence
is taken not given. He established the consititution and the election . he made a solid
basefeconomy of in his time, Iraq , Iraq be came the country number ( 53) as an
independency country on the third of November 1932 . he died peacefuliy after Iraq's
indepence.
Objective: The incidence of infectious diseases among hospitalized children remains high. This study describes the environmental health indicator diseases and differences between gender and age of the affected children. Patients & Methods: A review of hospitalization and death causes among children admitted to the Child Teaching Hospital for Pediatrics in Baghdad, Iraq was performed. Medical records of children admitted throughout three years period were collected for demographics data and statistical analysis using Chi-square test. Results: A total of 4,272 admissions and 309 deaths were recorded. Infectious diseases remain the primary cause of hospitalization among children and frequently lead to death; which recorded (56%) followed by ac
... Show MoreBackground: Obesity has become one of the most important public heath problems all over the world.An epidemic of obesity is affecting children and adolescents across the developed and developing countries in recent years. As the prevalence of obesity increased, so did the prevalence of co morbidities like metabolic and endocrine diseases.Objectives: To overview obesity clinical features and the prevalence of associated co morbidities in children and adolescents attended the obesity researches and therapy center in Alkindy medical collage.Type of study: This is a cohort observational studyMethods : Obese child and adolescents aged 4-15year attended the obesity research and therapy unit in AL Kindy medical collage from the 1st of September
... Show MoreA streptococci has recognized as Streptococcus spp., associate with acute pharyngitis. S. pyogenes infection Has detected in the Hospital and Health Center in Tikrit city. Throat swabs sample has obtained and cultured on a sheep blood agar plate. Identification of S. pyogenes was performed by using the VITEK 2 automatic system. It detected of 50 samples from children included 25 were positive for S. pyogenes infection. were aged 10-35 years old and included 30 male and 20 female. . While 25 sample Negative of S. pyogenes infection (The control group included 25 clinically healthy children without S. pyogenes infection matched for age and sex with cases pateints). No significa
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