Linear IgA dermatosis: An atypical manifestation of a rare disease
A 7-year-old girl was evaluated in the Pediatric Dermatology Department for pruritic skin lesions with one week duration. The lesions began in the neck region progressing to the trunk and upper limbs, sparing the lower body. There were no other symptoms associated. Contact with animals and sick people and trips to endemic sites were denied. Physical examination showed an erythematous and confluent urticariform rash, predominantly in the trunk (Fig.  1 – Panel A). Face and retroauricular region also revealed agglomerated vesicles and small bullous lesions with serous content(Fig. 1 – Panel B). (Source:...
Source: Pediatrics and Neonatology - December 21, 2017 Category: Perinatology & Neonatology Authors: Helena Ferreira, Catarina Vilarinho Tags: Images Source Type: research

Intestinal tight junctions are severely altered in NEC preterm neonates
Necrotizing Enterocolitis (NEC) is a severe inflammatory disorder of the intestine endangering the health and survival of preterm infants. It is well established that the gut barrier is severely damaged in NEC patients, nonetheless an in depth investigation of modifications at the transcriptional and translational levels of tight junction genes and proteins during NEC are still missing. The aim of this study was to investigate changes in the expression of tight junctions and other associated proteins during NEC and determine their correlation to the disease severity. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 21, 2017 Category: Perinatology & Neonatology Authors: Amir Bein, Smadar Eventov-Friedman, Dan Arbell, Betty Schwartz Tags: Original Article Source Type: research

Linear IgA dermatosis: An atypical manifestation of a rare disease
A 7-year-old girl was evaluated in the Pediatric Dermatology Department for pruritic skin lesions with one week duration. The lesions began in the neck region progressing to the trunk and upper limbs, sparing the lower body. There were no other symptoms associated. Contact with animals and sick people and trips to endemic sites were denied. Physical examination showed an erythematous and confluent urticariform rash, predominantly in the trunk (Fig.  1 – Panel A). Face and retroauricular region also revealed agglomerated vesicles and small bullous lesions with serous content(Fig. 1 – Panel B). (Source:...
Source: Pediatrics and Neonatology - December 21, 2017 Category: Perinatology & Neonatology Authors: Helena Ferreira, Catarina Vilarinho Tags: Images Source Type: research

The effect of nesting positions on pain, stress and comfort during heel lance in premature infants
Nesting positions are commonly used in procedural analgesic administration in premature neonates. The effectiveness of nesting positions is questioned. The aim of the this study was to assess the pain, stress, comfort and salivary cortisol and melatonin values in nesting positions during the heel lance procedure in premature infants at the NICU. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 13, 2017 Category: Perinatology & Neonatology Authors: Ay şe Kahraman, Zümrüt Başbakkal, Mehmet Yalaz, Eser Y. Sözmen Tags: Original Article Source Type: research

Risk factors for nosocomial infections after cardiac surgery in newborns with congenital heart disease
This study's objective was to identify the risk factors associated with the development of NIs after cardiac surgery in newborns with congenital heart disease. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 13, 2017 Category: Perinatology & Neonatology Authors: Heladia Garc ía, Beatriz Cervantes-Luna, Héctor González-Cabello, Guadalupe Miranda-Novales Tags: Original Article Source Type: research

The effect of nesting positions on pain, stress and comfort during heel lance in premature infants
Nesting positions are commonly used in procedural analgesic administration in premature neonates. The effectiveness of nesting positions is questioned. The aim of the this study was to assess the pain, stress, comfort and salivary cortisol and melatonin values in nesting positions during the heel lance procedure in premature infants at the NICU. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 13, 2017 Category: Perinatology & Neonatology Authors: Ay şe Kahraman, Zümrüt Başbakkal, Mehmet Yalaz, Eser Y. Sözmen Tags: Original Article Source Type: research

Risk factors for nosocomial infections after cardiac surgery in newborns with congenital heart disease
This study's objective was to identify the risk factors associated with the development of NIs after cardiac surgery in newborns with congenital heart disease. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 13, 2017 Category: Perinatology & Neonatology Authors: Heladia Garc ía, Beatriz Cervantes-Luna, Héctor González-Cabello, Guadalupe Miranda-Novales Tags: Original Article Source Type: research

Medical treatment of a female patient with complicated Klippel –Trenaunay syndrome
Klippel –Trenaunay syndrome (KTS) is a rare and sporadic congenital vascular disorder characterized by capillary and/or venous malformations or extensive distribution, along with an early onset of varicose veins, in addition to hypertrophy of the affected tissues.1 KTS has also been postulated to be a res ult of an embryonic developmental disorder of mesodermal tissues that affects angiogenesis at different stages, possibly following an intrauterine insult.2,3 The conventional treatments for KTS are conservative compression, sclerotherapy, lasers, and surgery4,5; however, there has been little discus sion in the lite...
Source: Pediatrics and Neonatology - December 11, 2017 Category: Perinatology & Neonatology Authors: Fang-Liang Huang, Han-Yu Chen, Te-Kau Chang Tags: Short Communication Source Type: research

Platelet mass index can be a reliable marker in predicting the prognosis of retinopathy of prematurity in very preterm infants
The objective was to suggest a simple minimal invasive method that will facilitate the management of the disease and help clinicians in predicting the prognosis. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 6, 2017 Category: Perinatology & Neonatology Authors: Levent Korkmaz, Osman Ba ştuğ, Ahmet Özdemir, Sabriye Korkut, Çağatay Karaca, Mustafa Ali Akın, Mehmet Adnan Öztürk Tags: Original Article Source Type: research

Differential prevalence of hematuria and proteinuria with socio-demographic factors among school children in Hualien, Taiwan
This study aimed to evaluate the prevalence of hematuria/proteinuria and its association with different socio-demographic factors among school children in 2013 in Hualien, Taiwan. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 5, 2017 Category: Perinatology & Neonatology Authors: Ming-Chun Chen, Jen-Hung Wang, Chia-Hsiang Chu, Ching-Feng Cheng Tags: Original Article Source Type: research

Acute peritoneal dialysis in neonatal intensive care unit: An 8-year experience of a referral hospital
The aim of present study was to evaluate the indications, complications and outcomes of acute peritoneal dialysis (APD) in neonates at a referral university hospital during the previous 8 years. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 4, 2017 Category: Perinatology & Neonatology Authors: Aslihan Kara, Metin Kaya Gurgoze, Mustafa Aydin, Erdal Taskin, Unal Bakal, Aysen Orman Tags: Original Article Source Type: research

Langerhans cell histiocytosis presenting like lichen planus in a 4-month-old infant
A 4-month-old infant was admitted to our hospital with skin rashes on his chest and back that appeared 1 month previously. He had previously undergone many therapies, but the lesions did not subside. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 4, 2017 Category: Perinatology & Neonatology Authors: Dilek Ece, Neriman Sahiner, Aslinur Ozkaya-Parlakay, Ayse Selcen Oguz-Erdogan, Derya Ozyoruk, Hasan Tezer, Belgin Gulhan, Saliha Kanik-Yuksek Tags: Images Source Type: research

Acute peritoneal dialysis in neonatal intensive care unit: An 8-year experience of a referral hospital
The aim of present study was to evaluate the indications, complications and outcomes of acute peritoneal dialysis (APD) in neonates at a referral university hospital during the previous 8 years. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 4, 2017 Category: Perinatology & Neonatology Authors: Aslihan Kara, Metin Kaya Gurgoze, Mustafa Aydin, Erdal Taskin, Unal Bakal, Aysen Orman Tags: Original Article Source Type: research

Langerhans cell histiocytosis presenting like lichen planus in a 4-month-old infant
A 4-month-old infant was admitted to our hospital with skin rashes on his chest and back that appeared 1 month previously. He had previously undergone many therapies, but the lesions did not subside. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 4, 2017 Category: Perinatology & Neonatology Authors: Dilek Ece, Neriman Sahiner, Aslinur Ozkaya-Parlakay, Ayse Selcen Oguz-Erdogan, Derya Ozyoruk, Hasan Tezer, Belgin Gulhan, Saliha Kanik-Yuksek Tags: Images Source Type: research

Fructose-1,6-bisphosphatase deficiency as a  cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients
We reported the clinical findings and molecular genetic data in seven Malaysian patients with FBPase deficiency. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 1, 2017 Category: Perinatology & Neonatology Authors: Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob, Huey Yin Leong, Wee Teik Keng, Bee Chin Chen, Lock Hock Ngu Tags: Original Article Source Type: research

Hepatoblastoma in an extremely low birth-weight infant with Beckwith –Wiedemann syndrome
Beckwith –Wiedemann syndrome (BWS) (OMIM 130650) is a congenital overgrowth disorder accompanied by macroglossia, umbilical hernia, organomegaly, and neonatal hypoglycemia.1,2 BWS predisposes the affected individuals to embryonic tumors (e.g., Wilms tumor, hepatoblastoma, and neuroblastoma) and is caused b y several types of molecular abnormalities that can be genomic or epigenetic. It has been recently demonstrated that the risk of tumor development appears to be dependent on these molecular subtypes. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 1, 2017 Category: Perinatology & Neonatology Authors: Yukako Kawasaki, Masami Makimoto, Azusa Samejima, Noriko Yoneda, Ken Higashimoto, Hidenobu Soejima, Taketoshi Yoshida Tags: Short Communication Source Type: research

Fructose-1,6-bisphosphatase deficiency as a  cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients
We reported the clinical findings and molecular genetic data in seven Malaysian patients with FBPase deficiency. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 1, 2017 Category: Perinatology & Neonatology Authors: Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob, Huey Yin Leong, Wee Teik Keng, Bee Chin Chen, Lock Hock Ngu Tags: Original Article Source Type: research

Hepatoblastoma in an extremely low birth-weight infant with Beckwith –Wiedemann syndrome
Beckwith –Wiedemann syndrome (BWS) (OMIM 130650) is a congenital overgrowth disorder accompanied by macroglossia, umbilical hernia, organomegaly, and neonatal hypoglycemia.1,2 BWS predisposes the affected individuals to embryonic tumors (e.g., Wilms tumor, hepatoblastoma, and neuroblastoma) and is caused b y several types of molecular abnormalities that can be genomic or epigenetic. It has been recently demonstrated that the risk of tumor development appears to be dependent on these molecular subtypes. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - December 1, 2017 Category: Perinatology & Neonatology Authors: Yukako Kawasaki, Masami Makimoto, Azusa Samejima, Noriko Yoneda, Ken Higashimoto, Hidenobu Soejima, Taketoshi Yoshida Tags: Short Communication Source Type: research

Incidence of hypoglycemia in newborns at risk and an audit of the 2011 American academy of pediatrics guideline for hypoglycemia
This study aimed to investigate the incidence and associated risk factors for hypoglycemia in newborn infants having risk and to assess compliance with the AAP guideline. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 30, 2017 Category: Perinatology & Neonatology Authors: Nihan Hilal Hosagasi, Mustafa Aydin, Aysegul Zenciroglu, Nuran Ustun, Serdar Beken Tags: Original Article Source Type: research

Reappraising newborn screening for cobalamin C disorder
Methylmalonic acidemia (MMA) is primarily caused by the deficiency of methylmalonyl-CoA mutase (MCM), but it can also be triggered by cobalamin disorders. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 30, 2017 Category: Perinatology & Neonatology Authors: Vlad Tocan, Kazuhiro Ohkubo, Kanako Higashi, Naoko Toda, Kanako Kojima-Ishii, Kei Nishiyama, Masataka Ishimura, Hidetoshi Takada, Osamu Sakamoto, Fusako Sasaki, Kazuko Yoshimura, Shinichi Hirose, Shouichi Ohga Tags: Short Communication Source Type: research

McCune –Albright Syndrome: Diagnosis and clinical course in eleven patients
McCune –Albright Syndrome (MAS) (OMIM #174800) is a rare and complex genetic disorder. It is characterized by bone lesions that mainly present as polyostotic fibrous dysplasia (PFD), “café-au-lait” spots (CALS), and the autonomous hyperfunction of various endocrine organs; it frequently manifests in females as precocious puberty.1 However, the partial or atypical form of MAS usually presents with only one or two cardinal characteristics given that the distribution of GNAS gene (locus 20q13.2, #139320) mutations are often restricted to affected tissues. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 30, 2017 Category: Perinatology & Neonatology Authors: Jia-Woei Hou Tags: Short Communication Source Type: research

Incidence of hypoglycemia in newborns at risk and an audit of the 2011 American academy of pediatrics guideline for hypoglycemia
This study aimed to investigate the incidence and associated risk factors for hypoglycemia in newborn infants having risk and to assess compliance with the AAP guideline. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 30, 2017 Category: Perinatology & Neonatology Authors: Nihan Hilal Hosagasi, Mustafa Aydin, Aysegul Zenciroglu, Nuran Ustun, Serdar Beken Tags: Original Article Source Type: research

Reappraising newborn screening for cobalamin C disorder
Methylmalonic acidemia (MMA) is primarily caused by the deficiency of methylmalonyl-CoA mutase (MCM), but it can also be triggered by cobalamin disorders. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 30, 2017 Category: Perinatology & Neonatology Authors: Vlad Tocan, Kazuhiro Ohkubo, Kanako Higashi, Naoko Toda, Kanako Kojima-Ishii, Kei Nishiyama, Masataka Ishimura, Hidetoshi Takada, Osamu Sakamoto, Fusako Sasaki, Kazuko Yoshimura, Shinichi Hirose, Shouichi Ohga Tags: Short Communication Source Type: research

McCune –Albright Syndrome: Diagnosis and clinical course in eleven patients
McCune –Albright Syndrome (MAS) (OMIM #174800) is a rare and complex genetic disorder. It is characterized by bone lesions that mainly present as polyostotic fibrous dysplasia (PFD), “café-au-lait” spots (CALS), and the autonomous hyperfunction of various endocrine organs; it frequently manifests in females as precocious puberty.1 However, the partial or atypical form of MAS usually presents with only one or two cardinal characteristics given that the distribution of GNAS gene (locus 20q13.2, #139320) mutations are often restricted to affected tissues. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 30, 2017 Category: Perinatology & Neonatology Authors: Jia-Woei Hou Tags: Short Communication Source Type: research

Intestinal obstruction caused by appendiceal knot
Appendicitis is the most common management challenge in children who undergo abdominal surgery. Currently, appendicitis accounts for approximately one-third of abdominal pain cases.1 The lifetime risk of appendicitis is estimated as 8.67% for boys and 6.7% for girls.2 Appendicitis is most common in older children and adolescents and is characterized by progressive central abdominal pain, with a peak incidence between 12 and 18 years.2 (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 28, 2017 Category: Perinatology & Neonatology Authors: Tso-Lin Lin, Shu-Fen Wu, An-Chi Chen, Teck-King Tan, Pei-Lin Wang Tags: Short Communication Source Type: research

Severe neonatal thrombocytopenia due to fetomaternal anti-A alloimmunization: A  case report
Fetal or neonatal alloimmune thrombocytopenia (FNAIT) results from a maternal alloimmunization against fetal platelet (PLT) antigens. FNAIT is the most common cause of severe fetal and neonatal thrombocytopenia in maternity wards. The most feared complication of FNAIT is the occurrence of intracranial hemorrhage. To date, 35 human platelet antigens (HPAs) have been described. NAIT can rarely be caused by other antigens expressed at the platelet surface, such as blood group A and B antigens. Here, we report the case of a transient but severe neonatal alloimmune thrombocytopenia due to an anti-A maternal alloantibody. (Sourc...
Source: Pediatrics and Neonatology - November 27, 2017 Category: Perinatology & Neonatology Authors: Gerald Bertrand, Anne Leguen, Laurence Delugin, Virginie Renac Tags: Short Communication Source Type: research

A rare case of a calcified cephalhematoma mistaken as a skull fracture
A 2-month-old-boy presented to our emergency department with an apparent depressed area in the left parietal region. His mother informed the emergency department about ventouse and forceps-assisted delivery at 41 weeks' gestation with unremarkable antenatal care. She noticed an initial soft swelling that was diagnosed at the time as a cephalhematoma and was conservatively treated. The swelling eventually decreased in size and hardened. There was no history of trauma; clinical examination was unremarkable apart from positional plagiocephaly and the presence of a depressed area in the left parietal region. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 27, 2017 Category: Perinatology & Neonatology Authors: Anan Shtaya, Ala'a Almousa, Bassam Dabbous Tags: Images Source Type: research

Severe neonatal thrombocytopenia due to fetomaternal anti-A alloimmunization: A  case report
Fetal or neonatal alloimmune thrombocytopenia (FNAIT) results from a maternal alloimmunization against fetal platelet (PLT) antigens. FNAIT is the most common cause of severe fetal and neonatal thrombocytopenia in maternity wards. The most feared complication of FNAIT is the occurrence of intracranial hemorrhage. To date, 35 human platelet antigens (HPAs) have been described. NAIT can rarely be caused by other antigens expressed at the platelet surface, such as blood group A and B antigens. Here, we report the case of a transient but severe neonatal alloimmune thrombocytopenia due to an anti-A maternal alloantibody. (Sourc...
Source: Pediatrics and Neonatology - November 27, 2017 Category: Perinatology & Neonatology Authors: Gerald Bertrand, Anne Leguen, Laurence Delugin, Virginie Renac Tags: Short Communication Source Type: research

A rare case of a calcified cephalhematoma mistaken as a skull fracture
A 2-month-old-boy presented to our emergency department with an apparent depressed area in the left parietal region. His mother informed the emergency department about ventouse and forceps-assisted delivery at 41 weeks' gestation with unremarkable antenatal care. She noticed an initial soft swelling that was diagnosed at the time as a cephalhematoma and was conservatively treated. The swelling eventually decreased in size and hardened. There was no history of trauma; clinical examination was unremarkable apart from positional plagiocephaly and the presence of a depressed area in the left parietal region. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 27, 2017 Category: Perinatology & Neonatology Authors: Anan Shtaya, Ala'a Almousa, Bassam Dabbous Tags: Images Source Type: research

Evaluate the diagnosis of neonatal sepsis by measuring interleukins: A systematic review
In this study, databases including PubMed, Cochrane Library, ISI and Google Scholar were searched up to 2016. Keywords were: Sepsis, neonatal, interleukins, prediction and diagnosis. Study inclusion criteria were: Articles about the relationship between the diagnosis of neonatal sepsis and interleukins; studies on babies; English and Persian articles and enough information from test results. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 24, 2017 Category: Perinatology & Neonatology Authors: Hassan Boskabadi, Maryam Zakerihamidi Tags: Review Article Source Type: research

Factors affecting body composition in preterm infants: Assessment techniques and nutritional interventions
Limited research has been conducted that elucidates the growth and body composition of preterm infants. It is known that these infants do not necessarily achieve extra-utero growth rates and body composition similar to those of their term counterparts. Preterm infants, who have difficulty in achieving these growth rates, could suffer from growth failure. These infants display an increased intra-abdominal adiposity and abnormal body composition when they achieve catch-up growth. These factors affect the quality of weight gain, as these infants are not only shorter and lighter than term infants, they also have more fat mass ...
Source: Pediatrics and Neonatology - November 24, 2017 Category: Perinatology & Neonatology Authors: K. Strydom, E. Van Niekerk, M.A. Dhansay Tags: Review Article Source Type: research

Evaluate the diagnosis of neonatal sepsis by measuring ILs: A systematic review
In this study, databases including PubMed, Cochrane Library, ISI and Google Scholar were searched up to 2016. Keywords were: Sepsis, neonatal, interleukins, prediction and diagnosis. Study inclusion criteria were: Articles about the relationship between the diagnosis of neonatal sepsis and interleukins; studies on babies; English and Persian articles and enough information from test results. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 24, 2017 Category: Perinatology & Neonatology Authors: Hassan Boskabadi, Maryam Zakerihamidi Tags: Review Article Source Type: research

Marked elevation of circulating CD19+CD38hiCD24hi transitional B cells give protection against neonatal sepsis
Adequate functions of immunoregulation, mediated by regulatory cells such as IL-10 producing CD19+CD38hiCD24hi transitional B cells (Trans), play an important role in control of excessive inflammatory response. Yet, the role of Trans in neonatal sepsis is incompletely understood. We investigated the role of Trans in late-onset sepsis (LOS). (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 24, 2017 Category: Perinatology & Neonatology Authors: Sitao Li, Fei Ma, Hu Hao, Desheng Wang, Yu Gao, Jialiang Zhou, Fei Li, Hung-Chih Lin, Xin Xiao, Qiyi Zeng Tags: Original Article Source Type: research

Factors affecting body composition in preterm infants: Assessment techniques and nutritional interventions
Limited research has been conducted that elucidates the growth and body composition of preterm infants. It is known that these infants do not necessarily achieve extra-utero growth rates and body composition similar to those of their term counterparts. Preterm infants, who have difficulty in achieving these growth rates, could suffer from growth failure. These infants display an increased intra-abdominal adiposity and abnormal body composition when they achieve catch-up growth. These factors affect the quality of weight gain, as these infants are not only shorter and lighter than term infants, they also have more fat mass ...
Source: Pediatrics and Neonatology - November 24, 2017 Category: Perinatology & Neonatology Authors: K. Strydom, E. Van Niekerk, M.A. Dhansay Tags: Review Article Source Type: research

Evaluate the diagnosis of neonatal sepsis by measuring ILs: A systematic review
In this study, databases including PubMed, Cochrane Library, ISI and Google Scholar were searched up to 2016. Keywords were: Sepsis, neonatal, interleukins, prediction and diagnosis. Study inclusion criteria were: Articles about the relationship between the diagnosis of neonatal sepsis and interleukins; studies on babies; English and Persian articles and enough information from test results. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 24, 2017 Category: Perinatology & Neonatology Authors: Hassan Boskabadi, Maryam Zakerihamidi Tags: Review Article Source Type: research

Marked elevation of circulating CD19+CD38hiCD24hi transitional B cells give protection against neonatal sepsis
Adequate functions of immunoregulation, mediated by regulatory cells such as IL-10 producing CD19+CD38hiCD24hi transitional B cells (Trans), play an important role in control of excessive inflammatory response. Yet, the role of Trans in neonatal sepsis is incompletely understood. We investigated the role of Trans in late-onset sepsis (LOS). (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 24, 2017 Category: Perinatology & Neonatology Authors: Sitao Li, Fei Ma, Hu Hao, Desheng Wang, Yu Gao, Jialiang Zhou, Fei Li, Hung-Chih Lin, Xin Xiao, Qiyi Zeng Tags: Original Article Source Type: research

Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia
Pseudoachondroplasia (PSACH; OMIM 177170) and multiple epiphyseal dysplasia (MED) are skeletal disorders that are characterized by mild to severe short-limb dwarfism and early-onset osteoarthrosis. They are inherited as either autosomal dominant (PSACH and AD-MED) or recessive (AR-MED) disorders. PSACH and one kind of AD-MED (EDM1, OMIM 132400) are caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP).1 The COMP gene has been assigned to chromosome 19q13.1, comprising 19 exons spanning approximately 9  kb. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 20, 2017 Category: Perinatology & Neonatology Authors: Wei-De Lin, I-Ching Chou, Chung-Hsing Wang, Fuu-Jen Tsai Tags: Short Communication Source Type: research

Urinary tract infections in neonates with unexplained pathological indirect hyperbilirubinemia: Prevalence and significance
It is controversial to test for urinary tract infection (UTI) in patients with unexplained indirect hyperbilirubinemia in the first 2 weeks of life. We aimed to study the prevalence and significance of UTIs in such neonates who were requiring phototherapy. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - November 14, 2017 Category: Perinatology & Neonatology Authors: Elif Bahat Ozdogan, Mehmet Mutlu, Secil Arslansoyu Camlar, G ülcin Bayramoglu, Sebnem Kader, Yakup Aslan Tags: Original Article Source Type: research

Newborn presentation of Niemann –Pick disease type C – Difficulties and limitations of diagnostic methods
Niemann –Pick disease type C (NPC) is a neurodegenerative, lysosomal lipid storage disorder characterized by the accumulation of unesterified cholesterol and secondary lipids trafficking in lysosomes and late endosomes.1,2 The broad clinical heterogeneity and a variable age of onset make the diagnosis cha llenging, which is why specific biochemical, histological, and molecular studies are required in the diagnostic process.1,2 Each of the current approaches has its own limitations, contributing to a delay in the proper diagnosis. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 31, 2017 Category: Perinatology & Neonatology Authors: Patryk Lipi ński, Irena Jankowska, Agnieszka Ługowska, Małgorzata Musielak, Maciej Pronicki, Anna Tylki-Szymańska Tags: Short Communication Source Type: research

Spontaneous neonatal renal vein thromboses: Should we treat them all? A report of five cases and a literature review
Renal vein thrombosis (RVT) is a rare but well-known neonatal entity for which several therapeutic modalities are reported in the literature because of the lack of consensus management guidelines. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 30, 2017 Category: Perinatology & Neonatology Authors: Fran çois Niada, René Tabin, Simon Kayemba-Kay's Tags: Original Article Source Type: research

Efficacy and safety of using colistin in neonates
The rate of health care-associated infections (HCAI) leading to mortality and morbidity in neonatal intensive care units (NICU) was estimated as 7 –24%.1 Increasing reports of HCAI being caused by multidrug-resistant Gram-negative bacilli (MDR-GNB), such as Acinetobacter baumannii, Pseudomonas aeruginosa, and Klebsiella pneumoniae, is worrisome.2–4 Using effective drugs on time correlated with less mortality due to bacteremia; therefore,2, 3 it is important to initiate an effective and safe regimen for treating MDR-GNB infections in neonatal patients. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 30, 2017 Category: Perinatology & Neonatology Authors: Hao-Yuan Lee, Cheng-Hsun Chiu Tags: Editorial Source Type: research

Reexamining the ideal depth of endotracheal tube in neonates
The appropriate endotracheal tube (ET) depth for the newborn with respiratory failure is important. Inappropriate ET depth increases the risk of uneven lung expansion and collapse. This retrospective study aimed to compare the final ideal ET depth with Tochen's formula in Taiwanese intubated neonates, and to determine the correlation between neonatal factors and final ideal ET depth, and to devise an accurate predictive formula for use in Taiwan. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 25, 2017 Category: Perinatology & Neonatology Authors: Hao-Wei Chung, Wei-Te Lee, Hsiu-Lin Chen Tags: Original Article Source Type: research