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Publication Publication Neurofibromatosis(Nepal Paediatric Society (JNPS), 2014) Sharma, D; Murki, S; Madhavi, VAbstract: Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues. Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop(1). We report a baby who was admitted with us in view of prematurity (34 weeks gestation ) and low birth weight (1.32 Kg). Baby’s mother was antenatally diagnosed with NF 1(figure no 1,2). Baby had multiple café au lait spots all over the bodies (figure no 3,4). Baby was discharged from nursery in well condition.Publication Neonatal Purpura Fulminans Authors(Nepal Paediatric Society (JNPS), 2014) Sharma, D; Yadav, JAbstract: Neonatal purpura fulminans is a rare, life-threatening condition of dermal microvascular thrombosis associated with DIC and perivascular hemorrhage in the newborn period associated with high morbidity and mortality [1]. Gram negative organisms and Staphylococcus species are the most common causes of the acute infectious type [2]. It may be congenital, as a result of protein C and S deficiency, or acquired due to severe infection. It is characterized by the rapid spread of symmetrical, bluish-black hemorrhages into the skin, affecting mainly the extensor surfaces of the extremities and showing a tendency to deep necrosis and the formation of sero-sanguineous bullae. The haemorrhagic areas are well defined and are surrounded by oedema. These lesions are accompanied by a high fever and intense systemic symptoms.Publication Unilateral Agenesis of Lung, Kidney with Cardiac and Vertebral Defects a Rare Association(Nepal Paediatric Society (JNPS), 2014) Maji, B; Ganguly, N; Ghosh, AAbstract: Unilateral lung agenesis initially misdiagnosed as unilateral massive pleural effusion with collapse of lung, and after several investigations, including ultrasonography or CT scan of thorax, fibre-optic bronchoscopy or bronchography, a final diagnosis of unilateral absence of lung is made. An anomaly scan may also reveal associated renal, cardiac and vertebral defects. Here we report a 7 months old female who presented with respiratory distress since birth and after a thorough investigation, she was found to have this rare association of pulmonary-renal-cardiacvertebral defect.Publication Ring Chromosome 13 in an Infant Girl(2014) Jodeiry, B; Rahmani, SA; Javaherizadeh, H; Mirnia, KAbstract: Ring chromosome 13, is an uncommon genetic syndrome. We report a girl infant with ring chromosome 13. She is 2nd offspring of family. She had no family history of genetic disorder. Karyotype showed 46xx,r(13). She had hypertelorism, wide nasal bridge, and long philtrum. She is the first report of ring chromosome 13 in Iranian children.Publication Recurrent pneumonia-H type Tracheoesophageal fistula, diagnostic dilemma(Nepal Paediatric Society (JNPS), 2014) Adhikari, S; Malla, K; Poudyal, PAbstract: Tracheoesophageal fistula (TEF) without associated esophageal atresia (EA) is a rare congenital anomaly. Most of the children are treated for episodes of pneumonia prior to definitive diagnosis. A 5 months infant presented with recurrent pneumonia and diagnosis of H type TEF was made with contrast esophagram.Publication Patent Urachus with Bladder Prolapse(Nepal Paediatric Society (JNPS), 2014) Thapa, B; Pun, MSAbstract: We report a case of bladder prolapse through a patent urachus in a term male neonate with a large, red, tubular, mucosa lined mass inferior to the umbilical cord. A cystic mass communicating with fetal urinary bladder was detected in an antenatal ultrasound in a 26 years primigravida at 18 and 26 weeks gestation. The cyst disappeared at 35 weeks and a new solid mass was noted at the fetal abdominal wall. After birth a protruded mucosal mass inferior to the umbilical cord was noted. Urethral catherisation confirmed communication with bladder. On the second day of life excision of urachus, repair, reduction of bladder and reconstruction of abdominal wall was performed. The patient voided well and was discharged on ninth day without any complication.Publication Chondrodysplasia Punctata(Nepal Paediatric Society (JNPS), 2014) Narang, GS; Arora, S; Khurana, MS; Singh, T; Shifali, DrAbstract: We report a case of two and a half months old male child affected by chondrodysplasia punctata, a rare condition characterized by depressed nasal bridge, hypoplastic distal phalanges and epiphyseal stippling of the bones.Publication Bleeding Meckel's Diverticulum in an Infant - A Case Report(Nepal Paediatric Society (JNPS), 2014) Shrestha, MK; Gurubacharya, RL; Devkota, K; Agarwal, NAbstract: Meckel’s diverticulum is a congenital diverticulum. Mostly it is asymptomatic. In children the commonest complication is lower GI bleeding. High index of suspicion is required for its diagnosis. Technetium-99m pertechnetate scan is useful to detect ectopic gastric mucosa. Surgical treatment of symptomatic Meckel’s diverticulum is diverticulectomy or ileal resection.Publication Review of Trimester-Specific Gestational Weight Gain and Childhood Adiposity(Nepal Paediatric Society (JNPS), 2014) Thapa, KAbstract: Childhood obesity is a global epidemic and a major public health challenge. There has been increasing evidence that intrauterine exposures, such as alcohol, smoking, and maternal nutritional status, may affect both the long and short term health consequences of the mother and offspring. Childhood adiposity may be affected by the mother’s pre-pregnancy weight and her weight gain during pregnancy. Consequently, interventions may need to start before conception of the child to prevent childhood obesity. In 2009, the Institute of Medicine updated its gestational weight gain recommendations by incorporating rates of gestational weight gain in the second and third trimesters based on the mother’s pre-pregnancy Body Mass Index. There is extensive research on the association between total gestational weight gain and short-term offspring adiposity. However, this review focuses on the association between trimester-specific gestational weight gain and childhood adiposity for singleton pregnancies with respect to the Institute of Medicine’s newly defined weight gain recommendations as very few studies have examined the association between the gestational weight gain during each trimester and childhood adiposity. Identifying the trimester that is most associated with childhood adiposity may help in the development of targeted interventions, guide physician’s nutritional and weight-gain recommendations for child-bearing mothers, and direct future research.Publication Thinness as Major Underlying Problem Among Adolescents of Northeast India(Nepal Paediatric Society (JNPS), 2014) Mondal, NAbstract: Background: Undernutrition is a major public health concern in many of the developing countries of Asia. Due to immense population size, socioeconomic disparities, illiteracy and inadequate access to health facilities prevalence is very high in India. The objective of this study was to determine the prevalence of age-sex specific thinness (low BMI-for-age) among adolescents residing in rural regions in India. Materials and Methods: This cross-sectional study has conducted among 1165 adolescent (602 boys; 563 girls) aged 10-18 years of Darjeeling district, West Bengal, India. Anthropometric measurements were height and weight obtained and BMI (weight/height2, kg/ m2) was calculated. The prevalence of thinness was assessed using newly proposed age-sex specific cut-offs of Cole et al. The data were analyzed using chi-square, ANOVA and Least Mean and Square (L,M and S) model approach. Results: Prevalence of overall thinness is 49.10% (51.16% boys, 46.89% girls) among rural adolescents. The boys are found to be more sufferer than girls in the different thinness grades include mild (grade I; 27.41% vs. 27.11%), moderate (grade II; 14.62% vs. 12.08%) and severe (grade III; 9.14% vs. 8.70%) (p>0.05). The age and sex specific smooth percentile curves of BMI were derived using L,M and S model approach for further evaluation of nutritional status. Conclusion: The existence of high prevalence of thinness among adolescents indicates nutritional deprivation among rural Indian adolescents. There is an urgent need of appropriate nutritional intervention program to address the public health problem related to undernutrition especially among nutritionally vulnerable segments of adolescents residing in rural regions to ameliorate the nutritional statusPublication Surgical Management of Spinal Dysraphism: Five -year Experience in a Central Hospital(Nepal Paediatric Society (JNPS), 2014) Banskota, N; Jha, R; Khadka, N; Sharma, GR; Bista, P; Kumar, PAbstract: Introduction: Spinal dysraphism is a heterogeneous group of congenital spinal anomalies resulting from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. Meningomyelocele is common among Neural tube defects. Patients with myelomeningocele present with a spectrum of impairments, including primary functional deficits like are lower limb paralysis, sensory loss, bladderbowel dysfunction and cognitive dysfunction. Medical, surgical management and rehabilitation have helped patients with neural tube defects to participate and be productive in mainstream society. The aims of this study were to review the clinical presentation, surgical management and their outcome in the patient with spinal dysraphism. Materials and Methods: This is a retrospective study of Forty-one cases of spinal dysraphism managed during a period of five years from January 2008 to December 2012 in Department of Neurosurgery, National Academy of Medical Sciences (NAMS), Bir Hospital. Demographic profiles, clinical presentation of patients with spinal dysraphism, associated hydocephalus, surgical management and outcome were studied. Results: Out of total 41 cases studied, male patients outnumbered female with 58.5% to 41.5%. Age ranged from 5 days to 29 years and mean age was 2.71 years whereas. Lump (97%) and paraparesis (88%) were frequent mode of presentation. Lumbar lesion (65%) was commonest followed by lumbosacral (29%). Hydrocephalus was present in 51% of cases and in 24% cases developed hydrocephalus later after repair. Total 75.6% of cases were treated with VP shunt. Conclusion: Spinal dysraphism is debilitating entity and management is challenging. Lump on back and weakness of limb are major factor for children and their parents seek medical service. Lesion in low back (lumbar and lumbosacral) were most common location. Besides repair, majority of them needed CSF diversion surgery for hydocephalus. Aim of surgical management was to prevent further deterioration, control of hydrocephalus or leak.Publication Snodgrass Tubularized Incised Plate Urethroplasty for Distal and Midpenile Hypospadias(Nepal Paediatric Society (JNPS), 2014) Thapa, B; Pun, MAbstract: Introduction: Despite hundreds of repair techniques for hypospadias, the introduction of tubularized incised plate urethroplasty (TIP) by Warren T. Snodgrass has become popular because of good functional and cosmetic outcome. The objective of this study was to share our experience of Snodgrass tubularized incised plate (TIP) urethroplasty for the repair of distal and mid-penile hypospadias. Materials and Methods: This prospective study was carried out for a period of 24 months. It included 46 male patients with the mean age of 4.1 years (18 months to 10 years). Proximal hypospadias and those distal with moderate to severe chordee were excluded. All cases underwent TIP urethroplasty as described by Snodgrass and the neourethra was covered by single or double layer of dorsal prepucial layer. The results were analyzed on the basis of duration of surgery, types of postoperative complications like urethrocutaneous fistula, meatal stenosis and wound dehiscence. Functional results assessed with ease of voiding, force and direction of urinary stream and cosmetic with external look of penis. Results: The overall complication rate requiring surgical intervention was 8 (17.3%). Mean duration of surgery was 66 minutes (60-80 minutes). Urethrocutaneous fistula occurred in 5 (10.8%), meatal stenosis in 1 (2.1%) and wound dehiscence in 2 (4.3%) patient. The cosmetic appearance was excellent in all patients involved in this study except 2 cases of wound dehiscence. All of them had vertically oriented slit like meatus with straight urinary stream. Conclusion: Tubularized incised plate urethroplasty gives good functional and excellent cosmetic results with low rate of complications in distal and mid-penile hypospadias.Publication Serum Calcium Levels in Preterm and Term Neonates on Phototherapy(Nepal Paediatric Society (JNPS), 2014) Arora, S; Narang, GS; Singh, GAbstract: Introduction: In addition to known causes of hypocalcemia like, prematurity, Intrauterine growth retardation (IUGR), asphyxia, sepsis, infants of diabetic mothers (IDM), high phosphate formula, Magnesium deficiency, effect of phototherapy on serum calcium levels has caught attention of researchers from time to time. The objectives of this study were to evaluate serum calcium levels in relation to duration of phototherapy, single surface Vs double surface phototherapy in term and preterm neonates. Materials and Methods: This study was done in a neonatal ICU of a tertiary care hospital. Hundred preterm and term neonates > 72 hrs of age with weight appropriate for gestational age were selected. Serum calcium levels were measured at the onset and after 24 hrs and 48 hrs of phototherapy and results were analyzed in both the groups. Results: Hypocalcemia was more frequently observed in term group as compared to preterm group. Hypocalcemia occurred more frequently after 48 hrs of continuous phototherapy in both groups. Hypocalcemia was more common under DSPT as compared to SSPT in both groups. Conclusion: Hypocalcemia is a significant problem in neonates subjected to phototherapy.Publication Immunophenotyping, Cytogenetic and Mutational Analysis in newly diagnosed AML patient and corresponding laboratory investigations for therapeutic monitoring and prognosis: Case Report(Institute of Medicine, 2016) Pant, V; Tumbapo, AAbstract Introduction Traditionally, AML (Acute Myeloid Leukemia) classification and risk stratification was based on cytogenetic studies; however, molecular detection of gene mutations has achieved its growing role in classification, risk stratification, and management of AML. Current standard of care combines cytogenetic results with testing for mutations in FLT3, NPM1, CEBPA, and KIT to determine the prognostic subgroup.Case presentation: Here we present a case of AML of 75 years’ male from western Nepal (Asian) who has improved symptoms and laboratory parameters after chemotherapy. Complete recovery from AML has also been reported earlier. Conclusion:Incorporation of new molecular markers to define prognosis in AML has helped to investigate the newer molecular targeting therapeutic agents. Keywords: AML, FLT3, NPM1, CEBPA, and KITPublication Paragonimiasis: First autochthonous case report from Nepal(Institute of Medicine, 2016) Sah, R; Khadka, S; Sherchand, JB; Parajuli, K; Shah, NP; Mishra, SK; Sharma, S; Shrestha, L; Basnet, S; Tandukar, S; Bhandari, D; Yadav, SR; Kattel, HP; Pokhrel, BM; Rijal, BNA.Publication Neglected Medial Hoffa Fracture for 9 years -A Case Report(Institute of Medicine, 2016) Thapa, SS; Lamichhane, A; Mahara, DPAbstract Hoffa fractures, coronal fractures of the femoral condyle, are uncommon injuries. It is often missed on initial plain radiographs. Medial Hoffa fractures are three times less common then lateral Hoffa. Here we present a case of neglected non-union of medial Hoffa fractures for 9 years, with good outcome after Open reduction and internal fixation. Keywords: Hoffa fracture, Non-unionPublication Synchronous dual primary gastric and colon cancer- an uncommon entity(Institute of Medicine, 2016) Pradhan, S; Kharel, A; Lakhey, PJ; Singh, KPAbstract Abstract Abstract The incidence of multiple primary malignant neoplasms is said to increase with age and the occurrence of a second malignancy in a patient with a known malignant tumor are not uncommon. They are being encountered mainly because of an improvement in diagnostic techniques and prolonged survival of patients treated for malignancy. However this phenomenon is still considered to be rare. Herein, we present a case of synchronous gastric and ascending colon cancer treated in our centre. Keywords: Synchronous dual primary cancer, gastric cancer, colon cancerPublication Xanthogranulomatous appendicitis: A case report(Institute of Medicine, 2016) Gartoulla, RPAbstract Xanthogranulomatous inflammation is a well described inflammatory condition which can involve any organ but is commonly seen in the gallbladder and kidney. Xanthogranulomatous inflammation involving the appendix is rarewith very few cases reported in the literature. Here we report a case of 19 years old girl with xanthogranulomatous appendicitis who underwent interval appendicectomy. Histopathology revealed the presence of predominance of foamy histiocytes admixed with lymphocytes and plasma cells. Keywords: cancer, tobacc0, media, smokingPublication Bilateral Peritonsillar Abscess: a case report(Institute of Medicine, 2016) Dongol, KAbstract Although unilateral peritonsillar abscess is a common problem in otorhinolaryngology, case of bilateral peritonsillar abscess is very rare. Not a single case of bilateral peritonsillar abscess has been reported from Nepal till date. This is a case report of a 52 years old lady who presented with bilateral peritonsillar abscess in emergency and was managed with incision and drainage and antibiotics. Keywords: Peritonsillar, Abscess