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Behzad Saberi*

DOI : 10.32474/PAPN.2020.03.000152

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There are various genetic disorders which can involve the nervous system or confined to the nervous system alone. This is a brief review on some neurogenetic disorders. Gene mutations disorders are the most common types of neurogenetic disorders. Myotonic syndromes, muscular dystrophies and motor neuron disease are some examples of these disorders. Genetic imprinting in some disorders like Prader–Willi syndrome and Angelman’s syndrome can be seen. In both of these syndromes there is a disruption on a part of chromosome 15 which the autosomal genes differential expression depends on their parental origin (maternal genes disruption in Prader–Willi syndrome and father’s genes disruption in Angelman’s syndrome)...... ReadMore

Akbar Nikkhah*

DOI : 10.32474/PAPN.2020.03.000151

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Pregnant women undergo metabolic adaptations and challenges that predispose them to a variety of complications. The objective of this article was to highlight the importance of eating timing and especially limited evening eating on optimizing pregnancy status and pediatric health and welfare. Because of limited evening and nocturnal metabolic capacity to handle nutrients (e.g., glucose), pregnant women are recommended to take smaller and earlier evening meals and instead distribute their main food meals over the course of morning and day hours. Such a food intake regimen would considerably reduce diabetes and obesity risks and improve upcoming lactation performance and pediatric health and welfare...... ReadMore

Santosh Kumar Kamalakannan*

DOI : 10.32474/PAPN.2020.02.000150

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Noma Neonatorum is a gangrenous infection involving the mucocutaneous junctions of oral, nasal,anal area and rarely the eyelids . It generally affects the premature low birth weight babies in the first few weeks of neonatal life. This rare complication of Pseudomonas septicemia has a very high fatality documented in previous literature...... ReadMore

Aamir Jalal Al-Mosawi*

DOI : 10.32474/PAPN.2020.02.000149

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Background: Mental retardation has been recently called by the American Psychiatric Association “Intellectual disability”, despite that the World Health Organization is still using the term “Mental retardation” in its ICD-10 publication. It is a heterogeneous condition marked by generalized neurodevelopmental abnormalities associated with significant impairment in mental or intellectual functioning and adaptive behaviors that affect every day general living. Patients and Methods: A comprehensive multi-factorial treatment approach was used to treat a boy with idiopathic (Moderate to severe) mental retardation who was uneducable with the main aim of making him more educable. Treatment courses included intramuscular citicoline, piracetam, cerebrolysin, and oral pyritinol. Results: Treatment was successful in advancing th..... ReadMore

Wael Nasser*, Haia Nasser, Bayan H, Amir Bar, Jerdev Michael, Ehsan N, Boshra N and Susan Nasser

DOI : 10.32474/PAPN.2020.02.000148

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Kenny-Caffey syndrome (KCS) type 1 is a rare hereditary skeletal disorder. KCS reported almost exclusively in middle eastern populations. It is characterized by severe growth retardation-short stature, dysmorphic features, episodic hypocalcemia, hypoparathyroidism, seizures, and medullary stenosis of long bones with thickened cortices. We present here three cases with the characteristic symptoms of growth retardation, dysmorphic features, and hypoparathyroidism. After a full investigation, Kenny- Caffery Syndrome was diagnosed...... ReadMore

Behzad Saberi*

DOI : 10.32474/PAPN.2020.02.000147

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Gelastic epilepsy, progressive cognitive decline, behavioral disturbances, and precocious puberty, can be the symptoms of the hypothalamic hamartomas [1-3]. Gelastic seizures or the pressure to laugh phenomenon, are the hallmark of the hypothalamic hamartoma’s epilepsy. These seizures usually begin in the neonatal period and will develop to seizures types which would be catastrophic and refractory in their nature. Recurrent brief seizures which would be initiated by grimacing or laugher which is not emotional in nature, are the characteristics of the gelastic fits [4-6]...... ReadMore

Behzad Saberi*

DOI : 10.32474/PAPN.2020.02.000146

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Coordinated manner of action of the projections from monoaminergic cell groups, cholinergic and orexin neurons, produces arousal. Turning this arousal system off would result in producing sleep. There is an important role for the Ventrolateral Preoptic Nucleus (VLPO) to inhibit the arousal circuits during sleep. VLPO neurons are sleep active neurons [1-3]. Also, these neurons contain GABA and Galanin as inhibitory neurotransmitters. Such neurons receive afferents from monoaminergic systems. VLPO lesions would cause fragmented sleep and insomnia...... ReadMore

Mavlyanova NN* and Nadjmutdinova DK

DOI : 10.32474/PAPN.2020.02.000145

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The article provides literature data on the significance of the study of antinuclear antibodies (anti-DNA) in systemic diseases including in obstetric pathology which are a prognostic criterion for the course of morbidity. Obstetric practice has paid particular attention to fetal growth restriction syndrome in recent years. Fetal Growth Restriction Syndrome (FGRS) is the cause of perinatal morbidity and mortality, the risk of sudden infant mortality [1]. According to WHO statistics the number of newborns with fetal growth restriction syndrome ranges from 31.1% in Central Asia to 6.5% in developed European countries...... ReadMore

Gokul Krishnan R*, Nirmala P and Chandrasekhar G

DOI : 10.32474/PAPN.2020.02.000144

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Background: Congenital anomalies are an important cause of neonatal and infant mortality, contribute upto 11% of neonatal deaths globally. With increasing use of routine prenatal ultrasound, early identification of these anomalies is possible in antenatal period and thereby adequate counselling could be done by the Neonatologists. The present study was done to know the incidence, pattern of congenital anomalies and various presentations, which may help for antenatal parents counselling and subsequent management after delivery. Aim and Objectives: The aim of our study was to analyze the antenatal incidence of major congenital anomalies in our hospital. Methods: This is a cross-sectional study done in the Neonatal division, Department of Pediatrics at Narayana Medical College hospital, Nellore, India between January 2018 to December ..... ReadMore

Mohammad Taghi Sheykhi*

DOI : 10.32474/PAPN.2020.02.000143

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The paper mainly explores the attitudes and perceptions of the families towards the value of children; optimistically as a source of happiness. Families invest on their children from cradle to grave as much as they can. The process of modernization in different dimensions is creating various controversies which require new and appropriate policies to solve the emerging problems. The value of children within the families in Iran originates in their socio-economic values in different dimensions to the parents. However, children are prone to prospering or suffering depending on the statues of families with special reference to the status of their mothers. Because of the obvious difference in the attitudes, values and life parents of people and families form different cultures and way of life, the perce..... ReadMore

Behzad Saberi*

DOI : 10.32474/PAPN.2019.02.000142

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Seizures which occur in the first twenty-eight days of life of a fullterm infant or in the forty-four weeks of gestational age in a preterm infant, define as neonatal seizures. Neonatal seizures incidence is about three in one thousand and the prevalence is about one and a half percent of live births [1-4]. The first to second day and up to the first week of life, is the most vulnerable time which seizures can be occurred at that. Neonatal seizures differential diagnosis is based on their time of onset...... ReadMore

Behzad Saberi*

DOI : 10.32474/PAPN.2019.02.000141

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There would be an important role for inflammation in the neonatal seizure disorders. Also, in status epilepticus and the brain injury consequences of that, inflammatory processes play an important role. IL-6, IL-1b, TNF-a and immune cells increased expression, has been found in seizure disorders [1-5]. The production of cytokines would be induced by epileptic seizures. Such cytokines production will influence seizures and their pathogenesis...... ReadMore

Lajos Lakatos*

DOI : 10.32474/PAPN.2019.02.000140

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AbstractD-penicillamine (D-PA) was first used as a potential benefit for neonatal hyperbilirubinemia (NHBI) caused by hemolytic diseases of the newborn infant or immaturity of UDP-glucuronyltransferase enzyme. In this time there was a remarkedly low incidence of retinopathy of prematurity (ROP) in the infants treated with D-PA. Later, our studies were replicated in other institutes in Hungary, Poland, the USA, India and Mexico. It is important to note that there was no intolerance or short- or long-term toxicity of the medication, in spite of the fact that D-PA was used 10-20 times higher doses in the newborn period, than those in adult age. To our concept, the bilirubin-induced neurologic dysfunction (BIND), ROP and Autism Spectrum Disorders (ASD) are neurodegenerative and neurodevelopmental diseases (NDs) of immat..... ReadMore

Hamonet C*, Ducret L and Bahloul H

DOI : 10.32474/PAPN.2019.02.000139

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Ehlers-Danlos syndrome is a frequent hereditary disease that affects all the connective tissue and is transmitted to all the children of an affected person. A diagnosis is possible, from birth, or shortly thereafter, when observing a clubfoot, hip dislocation, intestinal intussusception, acute umbilical or inguinal parietal hernia, hemorrhages [cutaneous, oral, gastric, intestinal, nasal], persistent constipation, regurgitation and vomiting during bottle-feeding, or false roads. These symptoms are often the cause of false allegations of abuse with children withdrawal and wrongful parents or false accusations of Munchausen disease “by delegation” in a parent, the mother most often...... ReadMore

RF Sartori*, N. CValentini, GC Nobre and RP Fonseca

DOI : 10.32474/PAPN.2019.02.000138

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Objective: The aim of this study was to describe the tests used to assess working memory, inhibition, and cognitive flexibility, and analyzed the main research results related to executive functions in children with Developmental Coordination Disorder or with poor motor skills. Methods: This review used as data sources studies in MEDLINE, Web of Science, APA PsycNET, EMBASE, and Google Scholar with children with poor motor skills, DCD, and typical development. Quality of the studies was conducted using the Newcastle Ottawa Scale. Results: 1475 papers found, 31 matched the review criteria; 31 different executive function tests used to assess children with poor motor skills and DCD. Across the 31 studies, included in this systematic review, eleven studies examined only the working memory; ten studies measured only inhibition, a single study..... ReadMore

ZhihuiRong, Wei Liu, Ling Chen and Liwen Chang*

DOI : 10.32474/PAPN.2019.02.000137

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Pulmonary hemorrhage (PH) is a life threatening condition in newborns, especially preterm infants. Surfactant replacement might be helpful to improve lung function and reduce the ventilation support in infants with PH. We report two premature infants (one with early onset PH and one with late onset PH) who have been successfully rescued by administering surfactant (Calsurf ) after an acute episode of bleeding. Both of the 2 infants survived, and surfactant administration showed improvement in mean airway pressure and oxygenation indices. In the current study Calsurf was found effective in the treatment of both early PH and late PH in premature infants. There were no potential side effects were found in our study...... ReadMore

Mehrdad Mirzarahimi, Manouchehr Barak*, Shima Sarfarazi Moghaddam and Efsaneh Enteshari Moghaddam

DOI : 10.32474/PAPN.2019.02.000136

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Objective: To investigate the effect of USDA in the treatment of indirect hyperbilirubinemia of neonates. Study design: This randomized clinical trial was conducted on neonates with indirect hyperbilirubinemia whom were hospitalized at Ardabil city hospital. 100 newborns were enrolled in the study and randomly divided into two groups. The treatment group (n=50) received 10 mg/kg/day divided q12h USDA in addition to phototherapy, while the control group (n=50) only received phototherapy. Total bilirubin levels were measured every 12 hours until reaching bilirubin below 10mg/dL. Also, duration of phototherapy and hospitalization in both groups were recorded. Data were analyzed in SPSS.21 using statistical methods. Results: There was no difference in the mean of total bilirubin between treat..... ReadMore

Jeewan Rawal*, Olajumoke Davies and Shatha Al-ani

DOI : 10.32474/PAPN.2019.02.000135

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Myasthenia gravis is an autoimmune disorder causing skeletal muscle weakness, most commonly in the eyes, bulbar muscles, limbs, and respiratory muscles. Whilst it usually presents with ocular symptoms or dysarthria, dysphagia and fatigable chewing, our patient presented with difficulty in breathing, needing oxygen to maintain normal oxygen saturation. This case illustrates importance of considering uncommon causes for common presentations, when it does not fit in with the diagnosis...... ReadMore

Santosh Kumar K*

DOI : 10.32474/PAPN.2018.02.000134

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Apnoea of prematurity (AOP) is a common problem affecting premature infants. Apnoea is defined as cessation of breathing for more than 20 seconds or for lesser duration when associated with bradycardia and desaturation. The most likely and accepted pathogenesis is the “physiologic” immaturity of respiratory control in the neonates. The physiological immaturities include altered ventilatory responses to hypoxia, hypercapnia, and altered sleep states. Other hypotheses include gastroesophageal reflux and anaemia which are still controversial. Three types have been identified namely obstructive, central and mixed types of apnoea. Management options include the use of supplemental oxygen, position chages and drug therapy with methyxanthines. Other supportive therapies include kangaroo care, packed cell transfusions. The long term neu..... ReadMore

Edwin Dias* and Anusha Dias

DOI : 10.32474/PAPN.2019.02.000133

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Ifosfamide encephalopathy is a fatal toxicity of Ifosfamide therapy. 13 cases have been reported till the year of 2018 worldwide in children and none among Ewing’s sarcoma cases. Here we are discussing a unique case of Ifosfamide encephalopathy during the course of treatment of Ewing’s sarcoma and was on Ifosfamide therapy and developed encephalopathy. Child improved symptomatically with MESNA and mannitol. Child was found to be normal on follow up and chemotherapy treatment was continued....... ReadMore