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1.
JNMA J Nepal Med Assoc ; 61(262): 562-565, 2023 Jun 01.
Article in English | MEDLINE | ID: mdl-37464858

ABSTRACT

Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e. Tuberous Sclerosis Complex 1 or Tuberous Sclerosis Complex 2 which codes for protein hamartin and tuberin leading to unopposed hyperactivation of the mammalian target of the rapamycin signalling pathway. It presents with a triad of facial angiofibroma, intellectual disability, and epilepsy. We present a case of a 17-month female toddler with abnormal body movement with loss of consciousness and later developing into generalised jerky movements. On magnetic resonance imaging, a diagnosis of tuberous sclerosis was made. The patient underwent symptomatic management with anti-epileptic. As seizures in these cases are subtle, they remain undiagnosed for a long time leading to delays in management and developing refractory seizures. Keywords: angiofibroma; case reports; seizures; tuberous sclerosis; tumor suppressor gene.


Subject(s)
Angiofibroma , Tuberous Sclerosis , Female , Humans , Infant , Tuberous Sclerosis/complications , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/genetics , Tumor Suppressor Proteins/genetics , Angiofibroma/diagnosis , Angiofibroma/etiology , Angiofibroma/metabolism , Sirolimus , Seizures/etiology
2.
JNMA J Nepal Med Assoc ; 61(258): 175-178, 2023 Feb 01.
Article in English | MEDLINE | ID: mdl-37203965

ABSTRACT

Abdominal tuberculosis is defined as infection of gastrointestinal tract, peritoneum, abdominal solid organs, and/or abdominal lymphatics constituting approximately 12% of extra-pulmonary tuberculosis cases. Intestinal perforation is an acute presentation of abdominal tuberculosis. Intestinal perforation can occur before or at the beginning of anti-tubercular therapy. It is considered to be a paradoxical reaction if it occurs during or after treatment. Intestinal perforation is uncommon but serious and life-threatening as complication-mortality rate secondary to perforation are estimated to be >30%. We present a case of an 18-year-old female who developed cecal perforation following an intraperitoneal abscess after completion of anti-tubercular therapy for intestinal tuberculosis. She was a known case of intestinal tuberculosis. She had undergone pigtail catheterisation for an intraperitoneal abscess and completed 18 months of anti-tubercular therapy after which she developed cecal perforation. A paradoxical response was observed following the completion of anti-tubercular therapy. Early diagnosis and treatment reduce the complications and mortality rates of cecal perforation due to abdominal tuberculosis. Keywords: case reports; cecum; intestinal perforation; tuberculosis.


Subject(s)
Intestinal Perforation , Peritonitis , Tuberculosis, Gastrointestinal , Female , Humans , Adolescent , Intestinal Perforation/chemically induced , Intestinal Perforation/diagnosis , Abscess/complications , Tuberculosis, Gastrointestinal/complications , Tuberculosis, Gastrointestinal/diagnosis , Cecum
3.
JNMA J Nepal Med Assoc ; 60(250): 584-587, 2022 Jun 01.
Article in English | MEDLINE | ID: mdl-35690972

ABSTRACT

Medicine is a line of work in which expectations run high, having a competitive spirit is considered a virtue and relentless hard work is deemed a reward in itself. Yet, in a strenuous environment such as this, communication about the struggles medical students face is found to be almost non-existent. This leads to medical students feeling burnt out, lost and inadequate, bringing about a drop in performance quality and/or quantity, which breeds further insecurity. This acts as a vicious cycle that is further perpetuated by the lack of effective communication, which becomes a bedrock for the deficit in support from peer groups, educators and authorities. There are different theories of motivation and these form the basis for exploring the different ways in which it can be increased. These methods, which contribute to enhancing productivity and curtailing stress, are detailed in the article. Keywords: cognition; medical students; motivation; self-concept.


Subject(s)
Schools, Medical , Students, Medical , Cognition , Humans , Motivation , Self Concept
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