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1.
Cureus ; 15(11): e48969, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38106781

RESUMO

Nail-patella syndrome (NPS) is a rare genetic disorder with multiple skeletal deformities and a variety of extra-skeletal involvements. We present a 17-year-old male with a clinical tetrad of skeletal abnormalities, multiple bony deformities, advanced renal failure, hypothyroidism, and dilated cardiomyopathy. A clinical diagnosis of NPS was made, supported by radiographic findings, and corroborated by compatible renal biopsy results. There are very few published reports describing the association of dilated cardiomyopathy with this syndrome. A high index of suspicion is needed to make this diagnosis, given myriads of multi-systemic manifestations.

2.
JNMA J Nepal Med Assoc ; 60(246): 196-199, 2022 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-35210643

RESUMO

Dextrocardia is an unusual inherent positioning of the heart: during fetal life, the heart is flipped to the right side rather than the usual left side. Situs inversus is a rare congenital ailment in which the main internal organs are rearranged or reflected from their natural positions, and when both conditions are present, it is called situs inversus totalis. The majority of the people with situs inversus totalis are unaware of the situation they have because most of them are asymptomatic. It is usually discovered incidentally when they consult the doctor for an unrelated condition. We are reporting a case of a 55-year-old woman who was found to have a situs inversus totalis with an absent left kidney.


Assuntos
Dextrocardia , Situs Inversus , Dextrocardia/diagnóstico , Dextrocardia/diagnóstico por imagem , Feminino , Humanos , Achados Incidentais , Rim/diagnóstico por imagem , Pessoa de Meia-Idade , Situs Inversus/diagnóstico , Situs Inversus/diagnóstico por imagem
3.
JNMA J Nepal Med Assoc ; 59(242): 987-991, 2021 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-35199703

RESUMO

INTRODUCTION: COVID-19 has a wide spectrum of clinical presentation ranging from asymptomatic infection to acute respiratory distress syndrome and multi organ dysfunction. Data regarding this is scarce in our setting. This study aims to study the prevalence of fever in confirmed COVID-19 cases in a tertiary care hospital of western Nepal. METHODS: We conducted a descriptive cross-sectional study among patients admitted to COVID-19 wards and intensive care units of a tertiary care hospital. We enrolled patients from August 2020 to January 2021 and the study proposal was approved by the Institutional Review Committee (reference number: 069/20). Convenience sampling method was used. Data entry and descriptive analysis were done in Statistical Package for the Social Sciences version 16.0. Point estimate at 95% Confidence Interval was calculated along with frequency and descriptive statistics. RESULTS: Among 206 cases of COVID-19, the most common symptom was fever 136 (66.1%) (95% Confidence Interval= 58.14.63-74.05). Sixty-seven (49.3%) of those with fever required intensive care units admission whereas 27 (19.9%) of patients with fever had mortality. Most common comorbidities in the patient having fever is Diabetes mellitus 41 (66.1%) followed by hypertension 20 (62.5%). CONCLUSIONS: Fever was the most common presenting complaint with high prevalence as compared to similar studies done in similar settings. We stress the importance of considering the presence of COVID-19 even in the absence of fever as many patients presented without fever.


Assuntos
COVID-19 , Estudos Transversais , Humanos , Nepal/epidemiologia , SARS-CoV-2 , Centros de Atenção Terciária
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