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    521 research outputs found

    Comprehensive Case Study of Wolfram Syndrome in a 12-Year-Old: Diagnostic Challenges and Multidisciplinary Care

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    Wolfram Syndrome (WS) or DIDMOAD is a rare form of inherited disease of the nervous system, which is categorized by diabetes insipidus, diabetes mellitus optic atrophy, and sensorineural deafness. WS is mentioned in the case of a 12-year-old male child diagnosed with diabetes mellitus at two years of age with an additional complication of vision impairment and hearing loss. Further, WS came to a conclusive diagnosis in 2016 and revealed a pathogenic variant within the WFS1 gene. The purpose of this case study paper is to describe the clinical presentation, how he was assessed and diagnosed, and how his care can be best coordinated. While the study focuses on the use of genetic testing in identifying such syndromes, there is a great need for interdisciplinary cooperation with endocrinologists, ophthalmologists, audiologists, and genetic counsellors. Since there is no cure for the disease, early and constant approaches should be implemented to improve the patient's quality of life, and patient-centred care should be encouraged

    Symptoms of Early Onset of Menopause in Women, A Cross-Sectional Study in District Shaheed Benazirabad

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    Spleen Infarction in Plasmodium Infection

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    Artificial Intelligence (AI) Trends in Dentistry: A Literature Review

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    Global health systems face challenges due to various socio-political factors, and there’s an increased demand for delivering health services efficiently with optimal resources while ensuring patient safety. AI methods support dental professionals in multiple aspects, including reducing chairside time, streamlining procedures, providing effective infection control, and delivering precise and accurate treatments. AI proves effective in-patient diagnosis, aiding clinical decision-making, and predicting dental issues, making it a dependable approach for future applications across different dental fields

    Duodenum Inversum: Case Report with an Updated Review of the Literature

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    In duodenum inversum (DI), the third part of the duodenum follows a superior, posterior course before crossing over the midline above the pancreas. A 35-year-old female presented with right upper quadrant (RUQ) pain for the last 2 months. The patient did not have any other medical conditions and had visited multiple hospitals for treatment of the RUQ pain. Upon abdominal examination, tenderness was noted in RUQ, leading to initial suspicions of costochondritis and cutaneous nerve inflammation. Symptoms were resolved with neuromodulator drug, Pregablin. A CT scan was then carried out, revealing incidental findings consistent with the Duodenum Inversum. This case report describes an incidental finding of Duodenum Inversum and an updated literature review, including 17 articles covering diagnostic procedures, treatment modalities, and associated complications

    Optimizing Patient Experience in Ultrasound-Guided Breast Biopsies: A Study on Anxiety Levels in a Tertiary Care Hospital

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    Comparison of Ocular Surface Squamous Neoplasia Recurrence with and Without Post-Surgical Mitomycin C 0.02%

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    Juvenile Hyaline Fibromatosis - Child with Scalp Swellings

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    Juvenile hyaline fibromatosis is a recessive autosomal hereditary disorder characterized by abnormal growth of hyalinized fibrous tissue. Its clinical presentation is manifested by benign skin lesions, bone lesions, joint contractures, and gingival hyperplasia. The underlying cause is an abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. This report presents a case of a 4-year-old male child; with complaints of multiple painful body swellings and pus discharge from scalp swellings for the past two years admitted at Dr. Ruth Pfau Civil Hospital, Karachi, 2021. This patient had right occipital scalp swelling of 10x 10 cm due to which surgery was done and the excision was successful. Other findings included stiff joints, skin overgrowth over the scalp and back + buttocks, multiple firm cystic swellings on the scalp, back, trunk, and whole body involving the face (nose), anal region, gum hypertrophy, and various papules over the nose

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