Journal of pediatrics & neonatal care最新文献

{"title":"Novel mutation in SPTA 1 gene associated with severe hemolytic anemia","authors":"James R. Polega, Jennifer Stumph, A. Agarwal, Chi Braunreiter","doi":"10.15406/jpnc.2018.08.00351","DOIUrl":"https://doi.org/10.15406/jpnc.2018.08.00351","url":null,"abstract":"Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) are caused by mutations in five genes ANK1, SLC4A1, SPTA1, SPTB and EPB4 which encode for the erythrocyte cytoskeletal proteins, ankyrin, band 3, α-spectrin, β-spectrin and protein 4.2, respectively.1 These mutations and the resultant defective proteins lead to loss of red cell membrane surface area and reduced red cell deformity.2 Approximately 25% of patients will not have a clear family history.3 These autosomal recessive or de novo cases of severe hemolytic anemia pose a diagnostic challenge. We report a pediatric case of hemolytic anemia without a family history, where molecular diagnostics provided a definitive diagnosis of a red cell membrane disorder. The results of the molecular diagnostics demonstrated a complex set of mutations, including a novel mutation in the SPTA1 gene, which assisted in counseling his parents that childhood immunizations and splenectomy would be the appropriate treatment.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41899051","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}

{"title":"Review of pressure ulcers management in pediatrics: assessment, prevention, and intervention","authors":"H. Sarsak","doi":"10.15406/JPNC.2018.08.00350","DOIUrl":"https://doi.org/10.15406/JPNC.2018.08.00350","url":null,"abstract":"A Pressure Ulcer (PU) is defined by the National Pressure Ulcer Advisory Panel (NPUAP) as a ‘‘localized injury to the skin and/ or underlying tissue usually over a bony prominence, as a result of pressure, or pressure in combination with shear and/or friction.1 Pus represent a significant healthcare problem and play a critical role in the patients’ quality of life and their treatments affect the patients’ lives emotionally, mentally, physically and socially.2 The staging system of PU was defined by Shea in 1975 and provides a name to the amount of anatomical tissue loss. The original definitions were confusing to many clinicians and lead to inaccurate staging of ulcers associated or due to perineal dermatitis and those due to deep tissue injury. In 2007, the proposed definitions were refined by the NPUAP and described in details with input from an on-line evaluation of their face validity, accuracy clarity, succinctness, utility, and discrimination.1,3","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44826221","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}

{"title":"Retrograde intussusception and Giant Meckel’s diverticulum: a rare occurrence in Waugh’s syndrome","authors":"Sunita Singh, Intezar Ahmed, J. Rawat","doi":"10.15406/jpnc.2018.08.00349","DOIUrl":"https://doi.org/10.15406/jpnc.2018.08.00349","url":null,"abstract":"Intussusception is defined as telescoping of proximal bowel segment into immediately adjacent distal bowel segment. Thorek and Lorrimer broadly classified intussusception into ante grade and retrograde variants (Table 1).1 Retrograde/ anti peristaltic/ reverse intussusception (RINT) is defined as “anti peristaltic telescoping of distal bowel into proximal bowel.1,2 Usually RINT occurs in patients with Roux-en-Y gastric bypass, long intestinal tubes, metastatic bowel malignancy, and Achalasia Cardia etc.1−7 Here, we describe a case of ileo-ileal RINT predisposed by a giant Meckel’s diverticulum (MD) in a patient with Waugh’s syndrome..","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48817266","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}

{"title":"Characteristics of rickets in a referral hospital in Khartoum-Sudan","authors":"Eltayeb Mohamed Ahmed Tayrab, Mohammed Abbas, Jowayria E Tayrab, K. Mohamed, A. Salih","doi":"10.15406/JPNC.2018.08.00348","DOIUrl":"https://doi.org/10.15406/JPNC.2018.08.00348","url":null,"abstract":"Rickets is a disease associated with failure of mineralization of growing bones in children.1,2 Rickets may be associated with growth retardation, muscle weakness, hypocalcaemia and alopecia totalis3. Rickets results from defective metabolism of calcium, phosphorus and/or vitamin D.4,5,6 Calcium and vitamin D are important nutrients for skeletal growth and bone health.7 Rickets can be caused by nutritional deficiencies or genetic disorders.4 Nutritional rickets is a health problem in developing countries.8 The most common cause of rickets is vitamin D deficiency.1 Genetic rickets; mostly resulted from mutations in the vitamin D receptor gene.3,9 Active vitamin D has an important role in calcium regulation and bone metabolism.10 Children are particularly vulnerable to 25-hydroxyvitamin D deficiency.7 Vitamin D regulates skeletal homeostasis both indirectly and directly.11 Nutritional type rickets is a child health problem in developing countries.5 Rickets is common among children with severe acute malnutrition and it is associated with increased risks of severe pneumonia and death.12 Vitamin D deficiency with or without calcium deficiency may lead to nutritional rickets.7 Vitamin D; can be synthesized in the skin or absorbed from the diet.11 Renal disorders also effect on mineralization and may be associated with rickets.1 Generally, clinical presentation of the rickets is heterogeneous and includes bone pain and deformities, muscle weakness, short stature and profound sweating.4,2 Rickets increases children susceptibility to infectious diseases.11 There is an association between rickets and some infectious diseases like hematogenous osteomyelitis in children.13 In the differential diagnosis of different forms of rickets; the detailed family history, physical examination, biochemical assessment and X-ray imaging are required.11,2 This study aimed to find the characteristics of rickets at JafarIbn Auf pediatric hospital in Sudan.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47367658","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}

{"title":"Assessment of quality of counselling for down syndrome in Sudan","authors":"Osama Hafiz El Shazali, Hala Abdullahi, H. Osman","doi":"10.15406/JPNC.2018.08.00347","DOIUrl":"https://doi.org/10.15406/JPNC.2018.08.00347","url":null,"abstract":"","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43241647","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}

{"title":"Assessment of mother’s knowledge on importance and need for Child Car Safety Seat in UAE","authors":"M. Elhalik, K. El-Atawi, R. Mahfouz, D. D’souza, M. Ali","doi":"10.15406/jpnc.2018.08.00360","DOIUrl":"https://doi.org/10.15406/jpnc.2018.08.00360","url":null,"abstract":"Automobile-related accidents are one of the prime reasons for morbidity and mortality in infants and children worldwide accounting for 22.3% of the total.1 Lowand middle-income countries have the highest incidences of road accidents worldwide causing 96% of the child deaths. Although United Arab Emirates (UAE) is a high-income country, the prevalence of child fatalities due to road accidents is more than twice of the global projection.2 Every two out of three deaths (~63%) in children below 14 years of age is due to road accidents in UAE.2 Infants taken in arms and child held on lap while driving is vulnerable to get severely injured in case of an accident.3 Restraining child by proper application of seat belts is the sole useful measure for decreasing the number of deaths and disabilities in infants and children due to road accidents.4 Child car safety seat correctly positioned in the back seat of the car along with age-appropriate accessories such as booster seats and lap belt decreases the risk of death and severe injuries in infants by 71% and in children between age 14 years by 54% to 80%.5,6 An inappropriately installed child car safety seat increases the risk of head injuries in children by four times.7 Further, children sitting freely in the rear seat of the motor vehicle experience 35% less of injuries than those in the front.8 To the above situation, an addition of seat belts further decreases the chance of getting injured by 44%.4 This, in turn, lowers the number of hospital admissions in children aged ≤4 years by 69%.9 Nonetheless, Emirati parents remain skeptical about the potency of child car safety seat as evident from their less usage. A preliminary survey conducted by UAE University demonstrated that a child is safer in the arms of the mother was the prevalent misconception among the UAE parents. Moreover, the study also indicated that Emirati parents found inconvenient to use the child safety seat which caused only 20% usage of car safety seats.10 Besides, other hurdles that come in the way of using child car safety seat includes big Emirati family size, Emirati culture, embarrassments felt by the child, and a shortage of police on roads as well as the use of tinted glass by the motorist affecting law enforcement. Albeit numerous initiatives were undertaken for promoting usage of child car safety seat in UAE none are fruitful enough to bring down the child-related fatalities at par with other high-income countries like the USA and Europe.11–14 In USA and Europe, motor vehicle-related child deaths due to road accidents account for only 3% and 5.2% of the total respectively.6 The reason is the lack of use of child safety seat by UAE parents. Among parents, mothers are very concerned about the safety of the infant/child.15 Understanding their awareness and perspective on child safety seat might aid in formulating laws and/or practices","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43527005","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}

{"title":"Immersive learning as an assessment and training tool for cardiopulmonary resuscitation skills","authors":"I. Gavryutina, B. Blokhin","doi":"10.15406/JPNC.2018.08.00345","DOIUrl":"https://doi.org/10.15406/JPNC.2018.08.00345","url":null,"abstract":"","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67080684","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}

{"title":"Assessment of newborns at birth for cardio-respiratory status requiring resuscitation and outcomes in a community hospital","authors":"Sun, T. Zahouani, Olga Brea, Wallis Tavarez, Upma Suneja, B. Rajegowda","doi":"10.15406/jpnc.2018.08.00344","DOIUrl":"https://doi.org/10.15406/jpnc.2018.08.00344","url":null,"abstract":"neonatal medicine, the rate of hypoxic ischemia continues to be at a constant with an incidence of 2-3 per 1000 live births in USA. HIE is a major cause of morbidity and mortality in term newborns infants.2 HIE has long term outcomes including cerebral palsy. Novel approaches like selective head and whole body cooling have become a standard of care to protect the brain from reperfusion injury, thereby improving their clinical outcome.3","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42015570","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}

{"title":"Carbamyol phosphate synthetase 1 gene (4217C>A) polymorphism and its relation to low plasma arginine level among preterm with necrotizing enterocolitis; a single center Egyptian study","authors":"Wesam A. Mokhtar, Reem Mohamed Allam, N. Zidan, Ghada Abdelmonem Mokhtar, M. Hamed","doi":"10.15406/JPNC.2018.08.00343","DOIUrl":"https://doi.org/10.15406/JPNC.2018.08.00343","url":null,"abstract":"Necrotizing entero-colitis [NEC] is the most prevailing and devastating acquired gastrointestinal emergency among premature neonates.1 Despite the observable worthy advancement in the care of small preemies over the foregoing decades, NEC; as yet; exists as a foremost leading predisposition for as certainable increase in mortality and poor outcome among tiny preemies in neonatal intensive-care-units [NICU].2 Although numerous predisposing factors have been well-settled, the explicit patho-etiological mechanisms of NEC is still unclear. It has been emphasized that the combination of immaturity & underdevelopment of intestinal motility, digestive ability, intestinal barriers, immune defense and intestinal microcirculatory regulation with an abnormal intestinal microbial colonization in the presence of genetic predisposition were the probable patho-etiological predispositions for development of NEC.1,3 Nitric oxide (NO); which is synthesized from amino acid (L-arginine) by NO synthetase enzyme (NOS); is the principle inhibitory neurotransmitter in the gastro-intestinal system. It has a crucial role in maintaining the vasodilator tone, regulate mucosal blood flow, and maintain intestinal mucosal integrity and barrier function. 4,5 L-arginine, which is declared as a functionally essential amino-acid, is one of the urea-cycle intermediates that produced by the action of carbamyol-phostphate synthetase 1(CPS1) enzyme.6 It has been noticed that the unavailability of L-arginine was associated with limitation in NO production and increased predisposition to NEC. In addition, numerous studies disclosed that plasma arginine concentration was declined in preemies with NEC.7–9 Moreover, it has been disclosed that arginine supplementation decreases the liability for NEC development.[7] CPS1 enzyme; which is encoded by CPS1 gene on chromosome (2q34); is the rate-limiting enzyme catalyzing","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48901842","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}

{"title":"Superior mesenteric artery syndrome (Wilkie’s syndrome): acute severe presentation in a 10 year old boy and role of early surgical management","authors":"Rajat Piplani, S. Acharya, D. Bagga","doi":"10.15406/JPNC.2018.08.00342","DOIUrl":"https://doi.org/10.15406/JPNC.2018.08.00342","url":null,"abstract":"Superior mesenteric artery syndrome is an atypical condition which was first described in 1861 by von Rokitansky.1 It is an unusual form of upper GI obstruction, also synonymous with Wilkie’s syndrome or cast syndrome or arteriomesenteric duodenal compression or chronic duodenal ileus which occurs due to compression of the third part of duodenum between abdominal aorta posteriorly and superior mesenteric artery anteriorly.2,3 It is mostly due to loss of retroperitoneal fat that normally acts as cushion around the SMA. Patient usually presents with chronic intermittent pain abdomen, bilious vomiting, nausea, early satiety and anorexia. A history of weight loss is usually seen but it is not a necessity.3 The diagnosis is basically by exclusion of other causes of upper GI obstruction and confirmed by upper gastrointestinal contrast study and contrast enhanced CT abdomen. A trial of initial conservative management can be given to all patients but surgical intervention in the form of duodenojejunostomy gives early and complete relief of the symptoms.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42762751","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}