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
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 cognitive and motor function as well as voluntary voiding and undiagnosed multiple endocrinologic problems who finally diagnosed with a giant partially thrombosed anterior communicating artery aneurysm with mass effect on sur rounding neurovascular structure who underwent a microsurgical clipping and aneurysm sac resection and experienced a very long post operative period regarding several post operative neurologic , endocrinologic and infectious problems.
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.
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 percentage, body fat percentage, and age-related change in BMI. Then, to compare the age-related change curves of muscle percentage and body fat volume with the described age-re lated curve of BMI, a cross correlation function was applied and the similarities and dissimilarities between BMI, muscle percent age, and body fat percentage were investigated. Moreover, their dependence on Fujimmon’s growth curve was investigated.
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 may be affected as hemodialysis causes rapid and marked changes in body fluid volume, including subcutaneous and interstitial tissue.
Dr Charles James de Vis, M.R.C.S., L.S.A. England, Surgeon to the Charters Towers Hospital, 1881-1892
Dr. Charles James de Vis was born in West Bromwich, UK, qual ified as a doctor in England, and migrated to Australia where he spent most of his abbreviated working life in the north Queensland town of Charters Towers.
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).
Coma Due to Wernicke Encephalopathy During Neoadjuvant Chemotherapy for Breast Cancer
We report the case of a 49 yr., woman who developed a coma dur ing neoadjuvant chemotherapy for breast cancer. Brain MRI was crucial for the diagnosis of Wernicke encephalopathy.
Severe and Transient Thrombocytopenia Following the Third Dose of COVID-19 Vaccine (mRNA-1273): A Case Report
Autoimmune thrombocytopenia after coronavirus disease 2019 (COVID-19) vaccination rarely occurs as adverse events and usu ally occurs after the first or second dose. We report the case of an 89-year-old woman who rapidly developed purpura with severe thrombocytopenia following the third dose of the mRNA-1273 Moderna vaccine. She had no adverse events following the first and second doses of the BNT162b2 Pfizer-BioNTech vaccine, but purpura with petechiae on the left upper chest and both upper and lower extremities appeared the day after the third dose with the mRNA-1273 vaccine.
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 ma jority of instances this is limited to the scalp, although other areas of the body may also be involved. It is characterized by a lack of skin and adjacent tissues, and it can extend into underlying tis sues, such as muscle tissue and bone, that can be underdeveloped or even absent. ACC can be life-threatening in severe cases. Both conservative and surgical approaches carry risks, and the timing of surgery remains controversial.