JNMA; journal of the Nepal Medical Association
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JNMA J Nepal Med Assoc · Nov 2018
Case ReportsRare Case of Female with Pelizaeus Mertzbacher Disease due to deletion of Proteolipid Protein 1: A Case Report.
Pelizaeus Merzbacher Disease is a rare X-linked central nervous system disease involving the proteolipid protein 1 gene. Patients exhibit signs for instance nystagmus, hypotonia, ataxia. We report a three-year-old female patient with chief compliant of developmental delay. ⋯ Our case highlights the second only known female with Pelizaeus Merzbacher Disease due to deletions of proteolipid protein 1 gene. For a patient with developmental delay, the importance of performing genetic testing and/or radiological imaging early on is strongly recommended. Keywords: deletion; female; Genetic testing; Pelizaeus Merzbacher Disease; Proteolipid Protein 1.
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Sirenomelia is primarily a congenital anomaly where a normally paired lower limb is replaced by a single midline limb and is characterized by single umbilical artery. Such cases though considered rare do occur at our set-up and to make health workers aware regarding the condition, so that they can be managed well when encountered, lays the importance of reporting such case. ⋯ Such cases do occur at our set-up so that if anomaly scanning is done routinely, they could be picked up early and management becomes easier. Keywords: case report; ectromelia; fused legs and feet; Mermaid syndrome; Sirenomelia.
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JNMA J Nepal Med Assoc · Nov 2018
Randomized Controlled Trial Comparative StudyEffects of Electrical Muscle Stimulation on Waist Circumstance in Adults with Adbominal Obesity: A Randomized, Double-blind, Sham-Controlled Trial.
We investigated the effects of electrical muscle stimulationon waist circumference as compared with an identical device providing transcutaneous electrical nerve stimulation as control in adults with abdominal obesity. ⋯ The 12-week electrical muscle stimulation program modestly reduced waist circumference in abdominally obese adults without side effects.
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JNMA J Nepal Med Assoc · Nov 2018
Comparative StudyDental Age Assessment using Demirjian's Eight Teeth Method and Willems Method in a Tertiary Hospital.
Age estimation is an important aspect in forensic anthropology, as it can aid in the identification of the deceased, and can be used in cases of immigration, child abuse and criminal prosecution in living individuals. Dental age estimation is considered reliable and accurate, since tooth development is least affected by environmental factors compared to somatic growth. ⋯ Willems method and Demirjian's eight teeth method underestimated the chronological age in the given population. Both methods showed excellent correlation with chronological age indicating their applicability in dental age estimation, with development of population specific scores.
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JNMA J Nepal Med Assoc · Nov 2018
Comparative StudyIs it Safe to Perform Laparoscopic Cholecystectomy for Acute Calculus Cholecystitis within 7 Days Following Symptom Onset?
Although operation within "golden 72 hours" from the onset of symptoms has been suggested for acute calculus cholecystitis, such early surgery is hardly possible in clinical practice because of variable timing of presentation. The aim of this study is to compare the outcomes of patients undergoing laparoscopic cholecystectomy within 72 hours of symptom onset with patients undergoing surgery after 72 hours up to 7 days of symptom onset for acute calculus cholecystitis. ⋯ Early laparoscopic cholecystectomy is a safe procedure when done within 7 days of symptom onset. There were no significant difference in conversion rate, operative time, hospital stay, morbidity and mortality.