JNMA; journal of the Nepal Medical Association
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JNMA J Nepal Med Assoc · Mar 2020
Case ReportsEruptive Xanthomas as Cutaneous Manifestation of Familial Combined Dyslipidaemia in an Eleven-year-old: A Case Report.
Xanthomas are subcutaneous lipid deposits containing macrophages loaded with cholesterol and cholesterol esters. Although quite common in adults, xanthomas in pediatric population are infrequent and when present, may represent a cutaneous manifestation of underlying lipoprotein disorders which most often are familial. We report a case of an eleven-year-old female child, with multiple eruptive xanthomas of skin since two years of age, a positive family history and deranged lipid profile consistent with possible familial hypercholesterolemia.
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JNMA J Nepal Med Assoc · Mar 2020
Case ReportsRare manifestations of Potter Sequence: A Case Report.
Potter sequence is a rare congenital malformation that primarily affects male fetuses and is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbsor limbs in abnormal positions or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. ⋯ The baby had severe perinatal depression at birth requiring resuscitation. Multiple congenital anomalies like absence of left eye, congenital cataract on the right eye, right-sided choanal atresia, micrognathia, low set ears, beaked nose, bilateral clubbed foot with hip deformity were noted. After 2 hours of life,baby developed fast breathing and cyanosis and died due to respiratory failure.
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Thanatophoric skeletal dysplasiais the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We encountered a similar case with ultrasonographic findings suggestive of Thanatophoric Skeletal Dysplasia which resulted in the death of the baby within an hour of birth. Almost all cases of this condition have been reported to have died interuterinally or a few days after birth.
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JNMA J Nepal Med Assoc · Mar 2020
Study of the Head of Human Dry Radii in a Medical College of Nepal: A Descriptive Cross-sectional Study.
Radius is a lateral bone of forearm. Its proximal end forms a part of elbow joint and superior radioulnar joint. Knowledge of the shape and size of radial head is essential for construction of radial head prosthesis. The objective of this study is to study the morphology of head of human dry radii. ⋯ The most common shape of radial head is elliptical but it was found to be circular in this study. This study will be useful for orthopedic surgeons in making prosthesis of radial head.
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JNMA J Nepal Med Assoc · Mar 2020
Caregiver Burden among Caregivers of Patient Undergoing Hemodialysis in Tertiary Care Center : A Descriptive Cross-sectional Study.
Chronic kidney disease affects almost all aspects of life of the patients and caregivers. Dialysis is a common treatment modality for chronic renal failure. The caregivers of patients undergoing hemodialysis bear the emotional and psychological stress of having a chronically ill patient. The physical and psychological distress, limitations in personal and social activities, loss of freedom, financial limitations directly or indirectly affect the level of burden among caregivers. This study aims to study the level of burden among caregivers of patient undergoing hemodialysis. ⋯ Coping Strategies, social support, support interventions has greater impact on caregivers in achieving their roles in caring the patients and increases the capability to cope effectively with the patient's condition.