Pub Date : 2022-12-31DOI: 10.3126/jnps.v42i2.42495
Pragati Adhikari Gautam, H. N. Dahal, J. Shrestha
Introduction: Glaucoma patients are known to have optic disc cupping, leading to loss of retinal ganglion cell axons. This peripapillary nerve thinness is known to be associated with glaucoma in adult patients. Hence, we intended to evaluate the peripapillary and macular nerve fiber thickness in eyes of pediatric glaucoma suspects using spectral domain optical coherence tomography (OCT). Methods: This cross-sectional analytical study included 44 eyes of 22 paediatric glaucoma suspects, who were compared with 40 eyes of 20 normal paediatric eyes. Pearson correlation coefficients were calculated to assess the relations between the peripapillary retinal nerve fiber layer (RNFL) thickness and ganglion cell complex (GCC). Receiver Operating Characteristics (ROC) curve was plotted for OCT parameters in both the groups along with area under the curve (AUC) calculation. P values < 0.05 were considered as statistically significant. Results: We found the RNFL to be thickest in the superior, inferior, nasal and temporal quadrants in both glaucoma suspects and normal group. When compared among quadrants in RNFL, all the values in different quadrants were statistically significant from each other and in between groups with p < 0.01. The RNFL thickness was statistically different in glaucoma when compared with normal in superior, temporal, and nasal quadrants however, no statistically significant difference was found in inferior quadrant RNFL. The largest AUC for discrimination of glaucoma suspect eyes from normal in peripapillary RNFL in was nasal quadrant in right eye, followed by temporal quadrant whereas it was largest in superior followed by nasal quadrants then average in left eye. However, AUC for discrimination of glaucoma suspects from normal in GCC was poor. Conclusions: Glaucoma suspect paediatric eyes showed significant thinning in peripapillary nerve fiber layer thickness compared to normal subjects.
{"title":"Evaluation of Peripapillary and Macular Nerve Fiber Layer Thickness in Paediatric Glaucoma Suspects","authors":"Pragati Adhikari Gautam, H. N. Dahal, J. Shrestha","doi":"10.3126/jnps.v42i2.42495","DOIUrl":"https://doi.org/10.3126/jnps.v42i2.42495","url":null,"abstract":"Introduction: Glaucoma patients are known to have optic disc cupping, leading to loss of retinal ganglion cell axons. This peripapillary nerve thinness is known to be associated with glaucoma in adult patients. Hence, we intended to evaluate the peripapillary and macular nerve fiber thickness in eyes of pediatric glaucoma suspects using spectral domain optical coherence tomography (OCT).\u0000 Methods: This cross-sectional analytical study included 44 eyes of 22 paediatric glaucoma suspects, who were compared with 40 eyes of 20 normal paediatric eyes. Pearson correlation coefficients were calculated to assess the relations between the peripapillary retinal nerve fiber layer (RNFL) thickness and ganglion cell complex (GCC). Receiver Operating Characteristics (ROC) curve was plotted for OCT parameters in both the groups along with area under the curve (AUC) calculation. P values < 0.05 were considered as statistically significant.\u0000Results: We found the RNFL to be thickest in the superior, inferior, nasal and temporal quadrants in both glaucoma suspects and normal group. When compared among quadrants in RNFL, all the values in different quadrants were statistically significant from each other and in between groups with p < 0.01. The RNFL thickness was statistically different in glaucoma when compared with normal in superior, temporal, and nasal quadrants however, no statistically significant difference was found in inferior quadrant RNFL. The largest AUC for discrimination of glaucoma suspect eyes from normal in peripapillary RNFL in was nasal quadrant in right eye, followed by temporal quadrant whereas it was largest in superior followed by nasal quadrants then average in left eye. However, AUC for discrimination of glaucoma suspects from normal in GCC was poor.\u0000Conclusions: Glaucoma suspect paediatric eyes showed significant thinning in peripapillary nerve fiber layer thickness compared to normal subjects.","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48330471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-31DOI: 10.3126/jnps.v42i2.44296
Ashish Shrestha, H. Hoang, Sue Gardner, A. Pradhan, L. Crocombe
Introduction: The objective of this paper is to review the literature on the incidence of cleft lip and palate (CLP) in the developing countries of Asia and Africa. The existing literature tends to focus on developed countries and there is lack of research in developing countries. Methods: The studies that met the inclusion criteria were reviewed and data extracted. There were 20 studies done in Asian and African countries which were included. Results: The incidence of CLP in Asian countries is markedly greater than in African countries. Most studies report a male predominance in CLPs and a female predominance in cleft palates. The male dominance is seen more than other developing countries which is consistent with other Asian countries and the same has been found in African countries. In the Nepalese study, females were slightly more affected than males among all clefts. The incidence or prevalence in the frequency and types of malformations of CLP in developing countries has been provided. Conclusions: The review underlines the need for an aggressive approach to prevent and control CLP in patients in developing countries.
{"title":"Prevalence of Cleft Lip and Palate in the Developing Countries of Asia and Africa: A Review","authors":"Ashish Shrestha, H. Hoang, Sue Gardner, A. Pradhan, L. Crocombe","doi":"10.3126/jnps.v42i2.44296","DOIUrl":"https://doi.org/10.3126/jnps.v42i2.44296","url":null,"abstract":"Introduction: The objective of this paper is to review the literature on the incidence of cleft lip and palate (CLP) in the developing countries of Asia and Africa. The existing literature tends to focus on developed countries and there is lack of research in developing countries.\u0000Methods: The studies that met the inclusion criteria were reviewed and data extracted. There were 20 studies done in Asian and African countries which were included.\u0000 Results: The incidence of CLP in Asian countries is markedly greater than in African countries. Most studies report a male predominance in CLPs and a female predominance in cleft palates. The male dominance is seen more than other developing countries which is consistent with other Asian countries and the same has been found in African countries. In the Nepalese study, females were slightly more affected than males among all clefts. The incidence or prevalence in the frequency and types of malformations of CLP in developing countries has been provided.\u0000Conclusions: The review underlines the need for an aggressive approach to prevent and control CLP in patients in developing countries.","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44482307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gastric duplication cyst is an unusual congenital malformation of the gastrointestinal tract representing 4% of all alimentary tract duplications. Clinically the patients may remain asymptomatic or symptoms can be nonspecific, which include abdominal mass, pain, nausea and emesis. We report a four year old male child who presented with intermittent pain in abdomen. The child was evaluated for the same by radiology which suggested a duplication cyst in epigastric region. The child underwent excision for the same following which histopathology confirmed the diagnosis of gastric duplication cyst (Gastric mucosal cyst).
{"title":"Gastric Duplication Cyst in 4 Years Male Child: A Rare Case Report","authors":"Yamini Ingle, Saurabh Shyamsunder Patil, Mangesh Londhe","doi":"10.3126/jnps.v42i3.46217","DOIUrl":"https://doi.org/10.3126/jnps.v42i3.46217","url":null,"abstract":"Gastric duplication cyst is an unusual congenital malformation of the gastrointestinal tract representing 4% of all alimentary tract duplications. Clinically the patients may remain asymptomatic or symptoms can be nonspecific, which include abdominal mass, pain, nausea and emesis. We report a four year old male child who presented with intermittent pain in abdomen. The child was evaluated for the same by radiology which suggested a duplication cyst in epigastric region. The child underwent excision for the same following which histopathology confirmed the diagnosis of gastric duplication cyst (Gastric mucosal cyst). ","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42169285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-31DOI: 10.3126/jnps.v42i3.47566
Umesh Singh, Indira Acharya
Introduction: Healthy and well-nourished mother is likely to give birth to a healthy normal child with adequate birth weight. We aimed to determine the correlation of gestational weight gain and newborn’s birth weight. Methods: We studied participant-level data for 295 pregnant women coming for delivery services between January 2018 and December 2020 at Shree Birendra Hospital, Chhauni, Kathmandu, Nepal. A retrospective data of pre-pregnancy body mass index, maternal weight gain during different trimesters of pregnancy were collected. The prevalence of small and large for gestational babies were compared with mother’s weight gain according to Institute of Medicine (IOM) guidelines. Pearson test was used to assess the correlation between gross maternal weight gain during pregnancy and birth weight. Results: Among 295 women, 12.2% underweight, 55.6% normal weight, 26.1% overweight and 6.1% were obese. The overall mean gestational weight gain (GWG) was 11.78 kg. Birth weight of the babies ranged from 1500 gm to 5100 gm with mean weight of 3148 gm. Majority of small for gestational age and large for gestational babies were seen among women below and above IOM guidelines respectively. Conclusions: Findings from this study suggest that maternal weight gain during pregnancy increases the birth weight. Across all BMI categories, insufficient GWG is associated with slightly increased risk of SGA, while relative risk of LGA is higher in excess GWG group.
{"title":"Correlation between maternal weight gain and birth weight among term babies","authors":"Umesh Singh, Indira Acharya","doi":"10.3126/jnps.v42i3.47566","DOIUrl":"https://doi.org/10.3126/jnps.v42i3.47566","url":null,"abstract":"Introduction: Healthy and well-nourished mother is likely to give birth to a healthy normal child with adequate birth weight. We aimed to determine the correlation of gestational weight gain and newborn’s birth weight.\u0000Methods: We studied participant-level data for 295 pregnant women coming for delivery services between January 2018 and December 2020 at Shree Birendra Hospital, Chhauni, Kathmandu, Nepal. A retrospective data of pre-pregnancy body mass index, maternal weight gain during different trimesters of pregnancy were collected. The prevalence of small and large for gestational babies were compared with mother’s weight gain according to Institute of Medicine (IOM) guidelines. Pearson test was used to assess the correlation between gross maternal weight gain during pregnancy and birth weight.\u0000Results: Among 295 women, 12.2% underweight, 55.6% normal weight, 26.1% overweight and 6.1% were obese. The overall mean gestational weight gain (GWG) was 11.78 kg. Birth weight of the babies ranged from 1500 gm to 5100 gm with mean weight of 3148 gm. Majority of small for gestational age and large for gestational babies were seen among women below and above IOM guidelines respectively.\u0000Conclusions: Findings from this study suggest that maternal weight gain during pregnancy increases the birth weight. Across all BMI categories, insufficient GWG is associated with slightly increased risk of SGA, while relative risk of LGA is higher in excess GWG group.","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43071846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-31DOI: 10.3126/jnps.v42i2.44533
S. Dhungel, A. Dhakal, K. Koirala, R. Mukhia, N. Bhusal, Abhishek Thapa
Introduction: Most non-retractile foreskins have been diagnosed with phimosis and referred for circumcision. However, many patients can be managed with corticosteroid cream. This study evaluates the effectiveness of the topical application of corticosteroid cream and manual prepucial stretching in the treatment of phimosis. Methods: This was a longitudinal observational study carried out among children aged six months to 10 years with the diagnosis of phimosis between 1st September 2019 to 31st August 2020. The patients were advised to apply 1% Hydrocortisone cream together with manual prepucial stretching twice daily for four weeks. Patients were assessed at four weeks and six months at the outpatient clinic using Kirkos grading for retractability. Results: A total of 110 patients were diagnosed with phimosis during the study period. Fourteen patients had pathological phimosis out of which four had balanitis xerotica obliterans and were excluded from the analysis. Ninetysix patients with physiological phimosis were treated conservatively with 1% hydrocortisone and manual prepucial stretching. Among them, 87 cases were successfully treated whereas five patients had a partial response with treatment failure in four cases. Those five cases with partial response underwent adhesiolysis while circumcision was performed in the remaining four patients with treatment failure. Prepucial retraction was possible in four weeks in most of the patients with physiological phimosis with successful results in 90.6% of cases. Conclusions: All non-retractile prepuce are not pathological phimosis and doesn’t need circumcision. Local application of a potent corticoid cream and foreskin stretching is a safe, simple, and effective long-term treatment for physiological unretractable foreskin in children.
{"title":"Effectiveness of Topical Steroid in Phimosis: A longitudinal Observational Study","authors":"S. Dhungel, A. Dhakal, K. Koirala, R. Mukhia, N. Bhusal, Abhishek Thapa","doi":"10.3126/jnps.v42i2.44533","DOIUrl":"https://doi.org/10.3126/jnps.v42i2.44533","url":null,"abstract":"Introduction: Most non-retractile foreskins have been diagnosed with phimosis and referred for circumcision. However, many patients can be managed with corticosteroid cream. This study evaluates the effectiveness of the topical application of corticosteroid cream and manual prepucial stretching in the treatment of phimosis.\u0000Methods: This was a longitudinal observational study carried out among children aged six months to 10 years with the diagnosis of phimosis between 1st September 2019 to 31st August 2020. The patients were advised to apply 1% Hydrocortisone cream together with manual prepucial stretching twice daily for four weeks. Patients were assessed at four weeks and six months at the outpatient clinic using Kirkos grading for retractability.\u0000Results: A total of 110 patients were diagnosed with phimosis during the study period. Fourteen patients had pathological phimosis out of which four had balanitis xerotica obliterans and were excluded from the analysis. Ninetysix patients with physiological phimosis were treated conservatively with 1% hydrocortisone and manual prepucial stretching. Among them, 87 cases were successfully treated whereas five patients had a partial response with treatment failure in four cases. Those five cases with partial response underwent adhesiolysis while circumcision was performed in the remaining four patients with treatment failure. Prepucial retraction was possible in four weeks in most of the patients with physiological phimosis with successful results in 90.6% of cases.\u0000Conclusions: All non-retractile prepuce are not pathological phimosis and doesn’t need circumcision. Local application of a potent corticoid cream and foreskin stretching is a safe, simple, and effective long-term treatment for physiological unretractable foreskin in children.","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44000406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-31DOI: 10.3126/jnps.v42i3.46063
S. Singh, B. Khanal, Shivani Singh
Introduction: Mechanical Ventilation is an essential tool in paediatric critical care unit. Judicious use of ventilation when indicated, is essential along with very close clinical and hemodynamic monitoring, for successful outcome. As prolonged ventilation is associated with numerous adverse outcomes, we tried to find out common complications associated with invasive mechanical ventilation and its outcome. Methods: The study is an observational descriptive study conducted on mechanically ventilated children admitted to Paediatric Intensive Care Unit during 48 months period (November 2019 to October 2021). Demographic features included age, sex, reason for mechanical ventilation, duration of mechanical ventilation and any other comorbidities. Outcomes parameters included death in hospital, discharge from intensive care unit or shift to ward and left against medical advice (LAMA). Results: Among 1352 children admitted to PICU, 212 children (15.68%) required invasive mechanical ventilation. Common causes for mechanical ventilation were sepsis / MODS in 22.64% cases, followed by pulmonary (20.28%) and CNS infections 39 (18.39%). 166 (78.30%) children were extubated successfully, 24 (11.32%) children expired and 22 (10.37%) went on LAMA. Mortality rate of 14.18% was found in children, who were ventilated for > 72 hours, which was statistically significant. Conclusions: Ventilatory support is essential and lifesaving tool for critically ill children. Mortality rate was higher and statistically significant in children who were ventilated for > 72 hours.
{"title":"Clinical Profile and Outcome of Ventilated Children Admitted to Paediatrics Intensive Care Unit in a Tertiary Care Centre","authors":"S. Singh, B. Khanal, Shivani Singh","doi":"10.3126/jnps.v42i3.46063","DOIUrl":"https://doi.org/10.3126/jnps.v42i3.46063","url":null,"abstract":"Introduction: Mechanical Ventilation is an essential tool in paediatric critical care unit. Judicious use of ventilation when indicated, is essential along with very close clinical and hemodynamic monitoring, for successful outcome. As prolonged ventilation is associated with numerous adverse outcomes, we tried to find out common complications associated with invasive mechanical ventilation and its outcome.\u0000Methods: The study is an observational descriptive study conducted on mechanically ventilated children admitted to Paediatric Intensive Care Unit during 48 months period (November 2019 to October 2021). Demographic features included age, sex, reason for mechanical ventilation, duration of mechanical ventilation and any other comorbidities. Outcomes parameters included death in hospital, discharge from intensive care unit or shift to ward and left against medical advice (LAMA).\u0000Results: Among 1352 children admitted to PICU, 212 children (15.68%) required invasive mechanical ventilation. Common causes for mechanical ventilation were sepsis / MODS in 22.64% cases, followed by pulmonary (20.28%) and CNS infections 39 (18.39%). 166 (78.30%) children were extubated successfully, 24 (11.32%) children expired and 22 (10.37%) went on LAMA. Mortality rate of 14.18% was found in children, who were ventilated for > 72 hours, which was statistically significant.\u0000Conclusions: Ventilatory support is essential and lifesaving tool for critically ill children. Mortality rate was higher and statistically significant in children who were ventilated for > 72 hours.","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47706096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-31DOI: 10.3126/jnps.v42i2.43002
Dinesh M. Sarathy, Kanimozhi Thandapani, A. Arunagirinathan, Umamageshwari Amirthalingam
Mild encephalitis / encephalopathy with reversible splenial syndrome (MERS) is a rare clinico-radiological entity characterized by mild to moderate neurological symptoms following a prodrome. Numerous infectious causes have been documented, most common being viruses and few bacteria (E. coli, Salmonella, Streptococcus & Legionella). MRI typically shows an isolated lesion in the splenium of corpus callosum, rarely in other white matter regions. Here, we discuss a 13 years old boy presenting to us like transient ischemic attack but turning out to be MERS on neuroimaging. The boy improved symptomatically in 72 hrs with spontaneous resolution within four weeks
{"title":"Rare Clinico-radiological Syndrome Mimicking Transient Ischemic Attack - A Case Report","authors":"Dinesh M. Sarathy, Kanimozhi Thandapani, A. Arunagirinathan, Umamageshwari Amirthalingam","doi":"10.3126/jnps.v42i2.43002","DOIUrl":"https://doi.org/10.3126/jnps.v42i2.43002","url":null,"abstract":"Mild encephalitis / encephalopathy with reversible splenial syndrome (MERS) is a rare clinico-radiological entity characterized by mild to moderate neurological symptoms following a prodrome. Numerous infectious causes have been documented, most common being viruses and few bacteria (E. coli, Salmonella, Streptococcus & Legionella). MRI typically shows an isolated lesion in the splenium of corpus callosum, rarely in other white matter regions. Here, we discuss a 13 years old boy presenting to us like transient ischemic attack but turning out to be MERS on neuroimaging. The boy improved symptomatically in 72 hrs with spontaneous resolution within four weeks","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45137230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-31DOI: 10.3126/jnps.v42i2.41954
N. Indika, R. Indika, A. Rolfs, C. Beetz, Sabine Schröder, C. Pereira, Volha Volha, M. Fernando, D. M. Vidanapathirana, Subhashinie Jayasena, E. Jasinge
Mucopolysaccharidosis type IVA is a rare autosomal recessive lysosomal storage disorder occurring worldwide in all ethnic groups. It is caused by biallelic variants in the GALNS gene (OMIM 612222). We report five cases of mucopolysaccharidosis type IVA with short stature and severe skeletal dysplasia. An optimized diagnostic strategy that combined enzymatic testing and genetic screening was applied. All the tested urine samples showed increased urinary glycosaminoglycan / creatinine ratios. In all five cases, the enzyme activity of galactosamine-6-sulfate sulfatase was pathologically decreased. Gene-targeted sequencing revealed a previously unreported homozygous c.139-12T>C variant of the GALNS gene in one patient and three previously reported missense variants in four patients; c.253T>C (p.Cys85Arg), c.626C>T (p.Ala209Val) and c.878C>T (p.Ser293Leu). Genetic studies not only confirm the diagnosis of mucopolysaccharidosis IVA, but also enable predicting the prognosis and facilitate genetic counseling. Enzyme replacement therapy is not available in Sri Lanka to date. However, the quality of life in these patients can be improved by a multidisciplinary approach.
{"title":"Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA","authors":"N. Indika, R. Indika, A. Rolfs, C. Beetz, Sabine Schröder, C. Pereira, Volha Volha, M. Fernando, D. M. Vidanapathirana, Subhashinie Jayasena, E. Jasinge","doi":"10.3126/jnps.v42i2.41954","DOIUrl":"https://doi.org/10.3126/jnps.v42i2.41954","url":null,"abstract":"Mucopolysaccharidosis type IVA is a rare autosomal recessive lysosomal storage disorder occurring worldwide in all ethnic groups. It is caused by biallelic variants in the GALNS gene (OMIM 612222). We report five cases of mucopolysaccharidosis type IVA with short stature and severe skeletal dysplasia. An optimized diagnostic strategy that combined enzymatic testing and genetic screening was applied. All the tested urine samples showed increased urinary glycosaminoglycan / creatinine ratios. In all five cases, the enzyme activity of galactosamine-6-sulfate sulfatase was pathologically decreased. Gene-targeted sequencing revealed a previously unreported homozygous c.139-12T>C variant of the GALNS gene in one patient and three previously reported missense variants in four patients; c.253T>C (p.Cys85Arg), c.626C>T (p.Ala209Val) and c.878C>T (p.Ser293Leu). Genetic studies not only confirm the diagnosis of mucopolysaccharidosis IVA, but also enable predicting the prognosis and facilitate genetic counseling. Enzyme replacement therapy is not available in Sri Lanka to date. However, the quality of life in these patients can be improved by a multidisciplinary approach.","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44961775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-27DOI: 10.3126/jnps.v42i1.37245
Shatanik Sarkar, Chaitali Patra, D. Guha, M. Dasgupta, Santanu Das
Introduction: This study was undertaken to evaluate the effect of nutrition on kidney size and to determine the correlation between renal parameters and different anthropometric parameters. Methods: This hospital-based descriptive observational study has been done in a tertiary care centre of Kolkata, West Bengal, India. Fifty malnourished children & 50 healthy children (Controls) within the age group of six months to five years were included in the study. Anthropometric parameters (e.g. weight, height, mid-arm circumference, skinfold thickness etc.) were measured manually and bilateral kidney sizes were measured by ultrasound. Results: Malnourished children had significantly lower weight, mid arm circumference, skinfold thickness, body mass index and body surface area [p < 0.001], but the difference in height / length was not significant (p = 0.074). The length, width, depth and volume of both left and right kidneys and relative renal volume were significantly lower in the malnourished children (p < 0.001). But, the same significance has not been found with kidney width, thickness or volume. Conclusions: Malnutrition adversely affects kidney growth in children of post-weaning age.
{"title":"Kidney size in Children of Post-Weaning age: Does Nutrition have an Effect?","authors":"Shatanik Sarkar, Chaitali Patra, D. Guha, M. Dasgupta, Santanu Das","doi":"10.3126/jnps.v42i1.37245","DOIUrl":"https://doi.org/10.3126/jnps.v42i1.37245","url":null,"abstract":"Introduction: This study was undertaken to evaluate the effect of nutrition on kidney size and to determine the correlation between renal parameters and different anthropometric parameters.\u0000Methods: This hospital-based descriptive observational study has been done in a tertiary care centre of Kolkata, West Bengal, India. Fifty malnourished children & 50 healthy children (Controls) within the age group of six months to five years were included in the study. Anthropometric parameters (e.g. weight, height, mid-arm circumference, skinfold thickness etc.) were measured manually and bilateral kidney sizes were measured by ultrasound.\u0000Results: Malnourished children had significantly lower weight, mid arm circumference, skinfold thickness, body mass index and body surface area [p < 0.001], but the difference in height / length was not significant (p = 0.074). The length, width, depth and volume of both left and right kidneys and relative renal volume were significantly lower in the malnourished children (p < 0.001). But, the same significance has not been found with kidney width, thickness or volume.\u0000Conclusions: Malnutrition adversely affects kidney growth in children of post-weaning age.","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42570019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-27DOI: 10.3126/jnps.v42i1.37768
Anil Acharya, N. Shrestha, S. Paudel
Introduction: Glue sniffing usually refers to volatile substance abuse (VSA) for psychoactive effects. Street children are the children who live, work, and earn their livelihood through the streets of urban settlements. Street children are mostly attracted to substance abuse and more particularly towards volatile substances as they are cheap, easy to access and have psychoactive effects as alcohol intoxication. This study aimed to assess the general characteristics of street children of Pokhara Metropolitan, Nepal who are addicted to glue sniffing. Methods: A cross-sectional study was conducted among street children who were addicted to glue sniffing through the snowball sampling method in Pokhara Metropolitan, Nepal. Results: All 88 children who were addicted to glue sniffing were males. Of the total children, 59 (67%) children started glue-sniffing at the age of five to ten years of age while nine (10.2%) children started sniffing even before they were five years old. Addiction to glue (n = 33, 37.5%), pleasure (n = 18, 20.5%)), coping with hunger (n = 14, 15.9%), and being a part of street children group (n = 13, 14.8%) were the major reasons to sniff glue for these children. Conclusions: It has been observed that the majority of street children are at increased risk of getting involved in glue sniffing. It has resulted in different ill outcomes such as self-destruction and problematic behavior, fights and police arrest. There is a need to focus on the issue of glue sniffing among the street children to save and ensure the quality of life of these vulnerable children.
{"title":"Glue Sniffing Among the Street Children Residing at Pokhara Metropolitan, Nepal: A Descriptive Cross-sectional Study","authors":"Anil Acharya, N. Shrestha, S. Paudel","doi":"10.3126/jnps.v42i1.37768","DOIUrl":"https://doi.org/10.3126/jnps.v42i1.37768","url":null,"abstract":"Introduction: Glue sniffing usually refers to volatile substance abuse (VSA) for psychoactive effects. Street children are the children who live, work, and earn their livelihood through the streets of urban settlements. Street children are mostly attracted to substance abuse and more particularly towards volatile substances as they are cheap, easy to access and have psychoactive effects as alcohol intoxication. This study aimed to assess the general characteristics of street children of Pokhara Metropolitan, Nepal who are addicted to glue sniffing.\u0000 Methods: A cross-sectional study was conducted among street children who were addicted to glue sniffing through the snowball sampling method in Pokhara Metropolitan, Nepal.\u0000 Results: All 88 children who were addicted to glue sniffing were males. Of the total children, 59 (67%) children started glue-sniffing at the age of five to ten years of age while nine (10.2%) children started sniffing even before they were five years old. Addiction to glue (n = 33, 37.5%), pleasure (n = 18, 20.5%)), coping with hunger (n = 14, 15.9%), and being a part of street children group (n = 13, 14.8%) were the major reasons to sniff glue for these children.\u0000Conclusions: It has been observed that the majority of street children are at increased risk of getting involved in glue sniffing. It has resulted in different ill outcomes such as self-destruction and problematic behavior, fights and police arrest. There is a need to focus on the issue of glue sniffing among the street children to save and ensure the quality of life of these vulnerable children.","PeriodicalId":39140,"journal":{"name":"Journal of Nepal Paediatric Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48181223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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