Journal of pediatrics, perinatology and child health最新文献

{"title":"Walker-Warburg Syndrome: A Case report of Congenital Muscular Dystrophy with Cerebro-Ocular Malformation, a Rare Syndrome in an African Patient","authors":"Insiyah A Amiji, Maria N Bulimba, Zawadi E Kalezi, Janeth Fidelis Tarimo, Karim P Manji","doi":"10.26502/jppch.74050016","DOIUrl":"https://doi.org/10.26502/jppch.74050016","url":null,"abstract":"Walker-Warburg Syndrome is a genetically heterogeneous disease with autosomal recessive inheritance presenting with congenital muscular dystrophy with cerebro-ocular malformations since birth or infancy. Literature shows a mutation in Protein O-Mannosyltransferase 1 (POMT1) gene, which results in a defect in O-mannosylation of α-dystroglycan, these proteins are central to the pathogenesis of structural and functional brain abnormalities however, the exact pathophysiology of this disorder is not fully understood. The overall incidence still remains unknown and most cases have been reported from the Western hemisphere. In our setting we report a case of 3 weeks old male baby who was delivered by spontaneous vertex delivery at gestation age of 26 weeks with birth weight of 1900 gm referred to our hospital on the 6th day of life, with complaint of bilateral prominent, protruding eyes and inability to close the eyelids. The parents were non-consanguineous and this was the first child. No ante- natal ultrasound was done during the pregnancy. On further examination, he had macrocephaly 33 cm (>97th centile) with no fusion of the sutures, depressed nasal bridge, low set ears, bilateral dental lamina cyst, bilateral cortical thumb, micrognathia, and scoliosis. Systemic examination revealed a normal conscious level with weak cry, normal facial symmetry, generalized hypotonia and primitive reflex were weak to absent and ocular examination revealed bupthalmos, bilateral megalocornea and glaucoma. Creatine kinase was elevated-522 unit/L (0-25 units/L). Cranial Ultrasound revealed Dandy-Walker cyst in the posterior fossa cyst, with third ventricle dilatation (ventriculomegally), the corpus callosum was normal, Interventricular hemorrhage grade 2 and hyper echogenic eyeballs. Echocardiography revealed Double Outlet Right Ventricle. Management was supportive, aimed to improve growth through optimum feeding, eye padding for protection and diuretics for the underlying congenital heart disease.Conclusion: Overall prognosis of this disease is poor, the baby died in 42 days due to aspiration pneumonia and progressive respiratory failure. Genetic counselling was done to the parents, since in families with one affected child, the risk of having another child with the disease is 25%. A high index of suspicion during a routine antenatal ultrasound could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling.","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69350125","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":"Report of a Case of Thrombocitopenic Syndrome with Radius Aplasia with a 16 Year Follow up in Celaya, Mexico, and Review of Literature","authors":"R. Puente, P. Rogelio, Daniela Rico Medina, V. Guarner-Lans, O. Grimaldo","doi":"10.26502/jppch.74050013","DOIUrl":"https://doi.org/10.26502/jppch.74050013","url":null,"abstract":"There are numerous published works on thrombocytopenic syndrome with radius aplasia. Most of them refer to cases or families with several affected individuals without giving them follow-up. Here we report the follow up of a patient with the syndrome. The clinical manifestations found in the patient are not classical since thrombocytopenic syndrome with Radius Aplasia does not usually have bilateral agenesis of radius and ulna at birth as is shown in this case. In addition, the musculoskeletal manifestations in this patient were present 16 years afterwards. Therefore, the phenotypic expression of this syndrome in the present case is of great interest.","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69350079","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":"Healthcare Disparities in the Treatment of Pediatric Distal Radius-Ulna Fractures: A Single-Institution Perspective","authors":"Andrew S. Moon, Thomas E Niemeier, Charles C. Pitts, G. McGwin, J. Khoury","doi":"10.26502/jppch.74050020","DOIUrl":"https://doi.org/10.26502/jppch.74050020","url":null,"abstract":"Background: This study sought to identify variables associated with socioeconomic disparities in the treatment of distal forearm fractures in children. Methods: A single-institution retrospective cohort study of patients less than 18 years of age with isolated fractures of the distal radius and ulna. Patient included underwent a closed reduction and casting under sedation by an orthopedic resident with outpatient, clinical follow up within two weeks of injury. Demographic data were collected. Primary outcomes evaluated were the final fracture alignment and rate of surgical treatment. Results: 177 children included in this study, including 105 with private insurance and 72 with Medicaid or no insurance, 129 were white and 48 were minorities, and 51 were female while 126 were male. There were no statistically significant differences between patient groups when assessed for treatment outcome, mean fracture displacement, time to first clinic appointment, and duration of follow-up. Rates of surgical treatment between all groups tested were non-significant. Of patients that met institutional operative criteria, a lower percentage of non-white (p=0.03), male (p=0.07), and non-private insurance patients (p=0.08) received surgery when surgery was indicated compared to white female patients with insurance. Conclusions: At a single institution, no clear disparities in the overall care and outcomes of children with distal radius and ulna fractures were identified. When surgery was indicated by institutional standards, a significantly greater percentage of white patients underwent surgery when compared to non-whites, but no significant difference in the percentage of good, fair, and poor outcomes between these groups was seen.","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69350188","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":"Home Respiratory Polygraphy-An Alternative for the Diagnosis of Pediatric Obstructive Sleep Apnea Syndrome","authors":"Cristina Nicoleta Tiboc, S. Man, V. Sas, G. A. Filip","doi":"10.26502/jppch.74050027","DOIUrl":"https://doi.org/10.26502/jppch.74050027","url":null,"abstract":"Obstructive sleep apnea syndrome is one of the most common types of sleep-disordered breathing in children and is characterized by partial or complete obstruction of the upper airways during sleep with repeated episodes of airflow cessation, reduction in blood oxygen saturation and sleep disruption to restore patency of the upper airways. Because polysomnography, the gold-standard test for the diagnosis of obstructive sleep apnea, is a costly procedure with technical difficulties, home respiratory polygraphy is used as an alternative diagnostic method. This review seeks to summarize the utility of home respiratory polygraphy in detecting obstructive sleep apnea syndrome and to show if it can be used as a substitute for polysomnography in children.","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69350262","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":"Knowledge of Diabetic Patients towards Diabetes Mellitus in a Sample of Patients Attending Diabetes and Endocrine Center","authors":"Khalida Saad","doi":"10.26502/jppch.7405009","DOIUrl":"https://doi.org/10.26502/jppch.7405009","url":null,"abstract":"Background: Diabetes is a chronic disease that affects people and requires the continuation of medical treatment and follow-up, which is a widespread disease at all the time and places in the world. Aims: To assess the knowledge level of participants towards diabetic mellitus and found any relation between variables. Methods: A cross-sectional descriptive study was conducted in Diabetes and endocrine center in Baghdad for a period started from February 2018 up to July 2018. In this study (150) diabetic patients from different age categories, both males and females, were included in the study. The data analysis through descriptive and chi- square statistical analysis by using soft STATA version 13. Results: The mean age of participants were 40.8 and SD 0.94 with 95% CI [39.0155-42.7310]. 52 (34.7%) in the age groups (40-49) years old, 86 (57.3%) were males, live in urban area were 128 (85.3%), employed 45 (30%), married 105 (70%), 38 (25.3%) were elementary school. Not statistically significant has been found between the type of diabetic and gender with the knowledge level toward diabetic. Conclusions: Most participants had type II diabetes mellitus and family history; the participants had a moderate Knowledge levels towards diabetes. Significant association has been found between the knowledge level of diabetic with the age groups and type of therapy. Assist patient to determine amount of food, drink, or glucose tablets; also, education and guidance are provided to patients to identify risks for hypoglycemia and hyperglycemia and appropriately treat hypoglycemia to avoid unnecessary caloric intake and weight gain.","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69350145","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":"Factors Affecting Mortality in the Transfusion of Concentrate of Hemacies in Pediatric Patients: A Systematic Review","authors":"Eduardo Manoel Pereira, Woryk de Souza Schröder Nowak, Caciano Vinicius Krenchinski, Lucas Renato Rocha","doi":"10.26502/jppch.74050030","DOIUrl":"https://doi.org/10.26502/jppch.74050030","url":null,"abstract":"","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69349850","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":"Embolic Stroke and Carotid Artery Occlusion in an Infant with Dilated Cardiomyopathy Secondary to Acute Myocarditis","authors":"W. Al-Twaijri, Fahad Al-Bassam, Tala Al-Bassri","doi":"10.26502/jppch.74050017","DOIUrl":"https://doi.org/10.26502/jppch.74050017","url":null,"abstract":"We are reporting on an 11-month-old infant girl with two interesting findings. The first is dilated cardiomyopathy following an acute clinical course, which on presentation suggested acute myocarditis; two-dimensional echocardiographic findings showed severely-dilated left atrial and ventricular chambers as well as severe ventricular dysfunction. The second is the occurrence of right-sided middle cerebral artery stroke, with clinical manifestations of sudden onset left-sided hemiparalysis, secondary to right carotid artery occlusion. To the best of our knowledge, there is no previous report in the literature of this condition within a similar age group.","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69350132","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":"Klippel-Feil Syndrome with Meningiocele and Chiari malformation-A Case Report","authors":"N. Zwn, Al-Gburi Sm, Al-Azzawe Hs","doi":"10.26502/jppch.74050012","DOIUrl":"https://doi.org/10.26502/jppch.74050012","url":null,"abstract":"","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69350072","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":"An Audit of Neonates Admitted to the Paediatric General Ward in a Tertiary Hospital, in South Africa","authors":"T. Ramdin, Mphelekedzeni C. Mulaudzi, D. Ballot","doi":"10.26502/jppch.74050014","DOIUrl":"https://doi.org/10.26502/jppch.74050014","url":null,"abstract":"South Africa is one of the countries in which neonatal mortality has remained the same or decreased slowly over the past 20 years. Many newborns are discharged after birth and readmitted within a few days. The Integrated management of childhood and neonate illness (IMCNI) guidelines uses seven danger signs to identify sick young infants. Aim: The aim of the study was to determine the profile and outcome of neonates admitted to the general paediatric wards at Charlotte Maxeke Johannesburg Academic Hospital (CMJAH). Methodology:Audit of all newborns (<28days) admitted to the general wards from 1 January 2011 to 30 April 2011. Results: A total of 75 neonates were admitted with a mean weight of 3.2 kg (SD 0.65). The majority of neonates 41/75 (54.6%) were male and 21/75 (28%) were Human Immunodeficiency Virus (HIV)-exposed. In the HIV-exposed group only 16/21 (76%) were on HIV prophylaxis. The most important clinical signs were tachypnoea (RR>60) 34 (46.6%) and jaundice 30 (41.1%). Most neonates, 45 (61%) were referred from the local clinic. The most common diagnoses were bronchopneumonia (BRPN) 22 (29.3%), neonatal sepsis (NNS) 27 (36%) and jaundice 20 (26.7%). Two patients died (2.7%) from NNS and BRPN. Conclusions: A proportion of the neonates are admitted from home to the general paediatric ward with mostly NNS, BRPN and jaundice. Although the mortality is low, admission to a neonatal ward may be more appropriate. IMCNI guidelines remain the most sensitive indicator of the need for admission, and “routine” investigations are often a non-contributor.","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69350084","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":"Determination of Neonatal Hearing Loss Related to the Use of Amikacin in Patients with Neonatal Sepsis through Screening with Otoacoustic Emissions in the General Hospital of San Jose Iturbide, Guanajuato, Mexico","authors":"O. Grimaldo, Antonio Rocha Garcia, Daniela Rico Medina, Irma Puga Calderón, Verónica Guarner Lans","doi":"10.26502/jppch.74050015","DOIUrl":"https://doi.org/10.26502/jppch.74050015","url":null,"abstract":"Hearing loss is an important problem during childhood, since the intellectual and social development of the child is closely linked to auditory afferences to the central nervous system. The disabling potential of hearing loss depends to a large extent on the precocity with which the diagnosis is made and the time when treatment and rehabilitation is initiated. The evaluation to identify hearing loss in neonates using otoacoustic emissions as a screening method has a sensitivity of 91% and a specificity of 85%, being ideal in this population group. Here we report a descriptive study on neonatal hypoacusia related to treatment with Amikacin done in the Neonatology Unit of the Department of Pediatrics of the General Hospital, San José Iturbide, Gto during the period comprised from January 2016 to October 2018. Fifty five patients were included who had undergone neonatal sepsis and received Amikacin at a dose of 12 mg / kg / day for a variable number of days (7 to 21) according to medical indication. Auditory screening with Otoacoustic Emissions was performed, observing that in 48/55 cases the test was approved (“approved”), and 7/55 cases did not approve the test (“failed”). In the \"failed\" group, a second evaluation was made with Otoacoustic Emissions, 3 months later. 7/55 patients were reassessed, finding that 6/55 patients now approved the test while only 1/55 cases failed the test. Therefore, the incidence of neonatal hearing loss associated with Amikacin therapy in patients with neonatal sepsis was of 1/55 cases. J Pediatr Perinatol Child Health 2019; 3 (2): 061-068 DOI: 10.26502/jppch.74050015 Journal of Pediatrics, Perinatology and Child Health 62","PeriodicalId":73894,"journal":{"name":"Journal of pediatrics, perinatology and child health","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69350119","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}