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A Novel Frameshift Mutation in GPT2 Gene Found by Whole Exome Sequencing Causing Mental Retardation and Seizures

1.1. Objective: Some studies reported GTP2 gene missense mu tations are associated with neurodevelopmental delay with spastic paraplegia and microcephaly. Here, we report a new frameshift mutation of this gene with new clinical presentations in an Iranian family

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Giant Partially Thrombosed Anterior Communicating Artery Aneurysm Presenting with Cognitive Decline and Gait Disturbance

Aneurysms usually present with subarachnoid hemorrhage and signs of increased intracranial pressure.Patients who survive after their first bleeding , have an estimated annual risk of rebleeding which is 1.27 % .We present a 35 years old male with a history of subarachnoid hemorrhage 7 months before admission , who de clined gradually in terms of

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Histopathology and Immunohistochemical Examinations in Adenosquamous Carcinoma, Cancer of the Stomach – Case Study

The authors present a case of gastric adenosquamous carcinoma in a 62-year-old female patient. A month earlier, an adenocarcinoma infiltration was diagnosed during gastroscopy in the histopatholog ical examination of specimens from the pyloric ulcer.

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Age-Related Composition of BMI and Body Composition Based on Fujimmon’s Growth Curve

The pubertal peak in body fat percentage was estimated and its relationship with menarche was previously investigated in regard to changes with age in BMI. However, there are no direct findings on age-related changes in body fat percentage and muscle percent age. In this study, wavelet interpolation model was applied to the values for muscle

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Disparity of Interstitial Glucose for Capillary Glucose in Dialysis Diabetic Patients

The prevalence of chronic kidney disease (CKD) has steadily in creased and diabetes is now considered the leading cause of end stage kidney disease (ESRD). Glycemic control in chronic renal patients on dialysis presents additional difficulties because both uremia and dialysis can affect insulin secretion and tissue insulin sensitivity. In dialysis patients, blood glucose measurement

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The Superiority of Amniotic Membrane in the Treatment of Aplasia Cutis Congenita

1.1. Introduction: Aplasia cutis congenital (ACC) is a heteroge neous group of disorders that share a common feature of focal skin loss. In most cases, this is limited to the scalp, also involve other parts of the body. (ACC) is a heterogeneous group of disorders whose common characteristic is focal absence of skin. In the

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Preliminary Study on the Application of “5G+AR” Portable Equipment for Emergency in Zhoushan Islands

1.1. Background: The geographical environment of Zhoushan Is lands makes it difficult for people to get standardized emergency treatment. Based on the current two hot technologies, we devel oped “5G+AR” remote consultation equipment to improve peo ple’s medical treatment.

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A 16-Year-Old Girl with Hereditary Hemorrhagic Telangiectasia

A 16-year-old girl was admitted to the hospital with severe ab dominal pain that could not be relieved. She was initially misdi agnosed as enterocolitis and did not improve after symptomatic treatment, the rupture of the spleen and massive blood accumu lation in the abdominal cavity were detected by ultrasonography and CT (Figure 1).

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