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1.
JNMA J Nepal Med Assoc ; 61(259): 271-273, 2023 Mar 01.
Article in English | MEDLINE | ID: mdl-37203937

ABSTRACT

Amyotrophic lateral sclerosis is a rare, progressive, incurable neurodegenerative disorder that affects motor neurons leading to progressive muscle weakness, disability, and eventually death. A 45-year-old male, initially presented with hoarseness, flickering of tongue, and intermittent aspirations. In course of three years, patient developed motor aphasia, frequent aspirations and an inability to hold his neck. Patient was diagnosed with a bulbar onset type of amyotrophic lateral sclerosis on the basis of neurodegenerative features with normal radiographic imaging. For the prevention of recurrent aspiration pneumonia, he was managed with a percutaneous endoscopic gastrostomy tube. As he started developing respiratory failure tracheostomy was performed and kept on a continuous bi-level positive airway pressure ventilator, in the meantime, two courses of injection Edaravone were given. Early evaluation, diagnosis and management of the condition is a cornerstone for better prognosis of disease and survival. Keywords: amyotrophic lateral sclerosis; aspiration pneumonia; case reports; edaravone.


Subject(s)
Amyotrophic Lateral Sclerosis , Respiratory Insufficiency , Male , Humans , Middle Aged , Amyotrophic Lateral Sclerosis/complications , Amyotrophic Lateral Sclerosis/diagnosis , Amyotrophic Lateral Sclerosis/therapy , Edaravone , Respiratory Insufficiency/etiology , Prognosis , Tracheostomy/adverse effects
2.
JNMA J Nepal Med Assoc ; 61(268): 938-940, 2023 Dec 01.
Article in English | MEDLINE | ID: mdl-38289757

ABSTRACT

Introduction: Overweight is defined as a condition in which abnormal accumulation of fat directly affects an individual personality and health leading to a marked increase in morbidity and mortality. It has a direct impact on both the psychological aspects of an individual's personality and their overall health. The objective of this study was to find out the prevalence of overweight among medical students in a medical college. Methods: A descriptive cross-sectional study was done among first and second-year medical students in a medical college between 20 February 2023 to 3 March 2023 after receiving ethical approval from the Institutional Review Committee. Students studying Bachelor of Medicine, Bachelor of Surgery and Bachelor of Dental Surgery during the study period who gave consent were included and those students with a recent medical history of fever, typhoid, diarrhoea, thyroid disorder, metabolic disorders, or any other relevant medical condition within the preceding 1 month, potentially influencing body weight, were excluded. A convenience sampling method was used. The point estimate was calculated at a 95% Confidence Interval. Results: Among 164 students, the prevalence of overweight was 43 (26.22%) (19.49-32.95, 95% Confidence Interval). The mean age was 20.65±1.08 years. Conclusions: The prevalence of overweight among medical students was higher than in other studies done in similar settings. Keywords: anthropometry; body mass index; body weight; overweight.


Subject(s)
Overweight , Students, Medical , Humans , Young Adult , Adult , Overweight/epidemiology , Students, Medical/psychology , Obesity/epidemiology , Cross-Sectional Studies , Body Weight
3.
JNMA J Nepal Med Assoc ; 60(256): 1063-1065, 2022 Dec 01.
Article in English | MEDLINE | ID: mdl-36705097

ABSTRACT

Down syndrome is a genetic disorder caused by an extra copy of chromosome number 21. New onset of seizure in adults with Down syndrome is rare. The exact pathogenesis of intracranial calcification and seizure in Down syndrome is unknown, however, a possible association between hypocalcemia and vitamin D deficiency in Down syndrome was reported. An 18-year-old girl with nasal bridge, mongoloid slants, clinodactyly and saddle gap of toes, and prominent Downs phenotypes was present with a low level of parathyroid hormone, calcium, and vitamin D. Due to a higher prevalence of intracranial calcification in people with Down syndrome, there is an increased possibility of hypocalcemia and vitamin D deficiency. Hence, serum levels of calcium and vitamin D should always be checked before starting treatment with anti-epileptic drugs. Keywords: basal ganglia; Down syndrome; seizure; trisomy 21.


Subject(s)
Calcinosis , Down Syndrome , Hypocalcemia , Hypoparathyroidism , Vitamin D Deficiency , Humans , Calcinosis/diagnostic imaging , Calcinosis/etiology , Calcium , Down Syndrome/complications , Down Syndrome/drug therapy , Hypocalcemia/etiology , Hypoparathyroidism/complications , Hypoparathyroidism/drug therapy , Seizures/etiology , Vitamin D , Female , Adolescent
4.
JNMA J Nepal Med Assoc ; 60(255): 978-981, 2022 Nov 02.
Article in English | MEDLINE | ID: mdl-36705174

ABSTRACT

Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At least 19 genes have been identified in the causation of lissencephaly and related syndrome. Lissencephaly is associated with many other congenital disorders but the association of lissencephaly with congenital hypothyroidism is rarely reported. We report a case of a 10-year-old girl having lissencephaly with congenital hypothyroidism. Early diagnosis of lissencephaly and genetic counselling can be made in suspected cases and further possible interventions can be taken. Also, regular follow-up, monitoring, and better conservative management lead to a better prognosis. Keywords: congenital abnormalities; hypothyroidism; lissencephaly; neuronal migration disorders.


Subject(s)
Classical Lissencephalies and Subcortical Band Heterotopias , Congenital Hypothyroidism , Lissencephaly , Female , Humans , Child , Congenital Hypothyroidism/complications , Congenital Hypothyroidism/diagnosis , Lissencephaly/complications , Lissencephaly/diagnosis , Lissencephaly/genetics , Classical Lissencephalies and Subcortical Band Heterotopias/diagnosis , Classical Lissencephalies and Subcortical Band Heterotopias/genetics , Phenotype
5.
JNMA J Nepal Med Assoc ; 60(251): 644-647, 2022 Jul 01.
Article in English | MEDLINE | ID: mdl-36705187

ABSTRACT

Myasthenia gravis is a neuromuscular junction disorder characterised by fluctuating muscle weakness, improved by using anti-cholinesterase drugs. In addition to the autoimmune aetiology, various factors such as infections, surgery, and drugs are known to precipitate the condition. We report a case of a 15-year-old boy with D-penicillamine-induced myasthenia gravis who presented with facial diplegia, dysphagia, and drooling of saliva, 6 years after the initiation of treatment for Wilson's disease. Therefore, clinicians should be more vigilant while prescribing patients with chelating drugs like D-penicillamine with regular monitoring of the new symptoms and keeping a very low threshold for the suspicion of myasthenia gravis. Keywords: d-penicillamine; myasthenia gravis; pyridostigmine; Wilson's disease.


Subject(s)
Hepatolenticular Degeneration , Myasthenia Gravis , Male , Humans , Adolescent , Penicillamine/adverse effects , Hepatolenticular Degeneration/complications , Hepatolenticular Degeneration/diagnosis , Hepatolenticular Degeneration/drug therapy , Myasthenia Gravis/chemically induced , Myasthenia Gravis/diagnosis
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