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https://www.readbyqxmd.com/read/29627929/first-cardiac-manifestation-of-hypotonia-cystinuria-syndrome
#1
Mustafa Kılıç, Ahmet Cevdet Ceylan, Utku Arman Örün, Esra Kılıç
Hypotonia-cystinuria syndrome is a very rare autosomal recessive contiguous gene deletion syndrome of PREPL and SLC3A1 at 2p21 with neuromuscular and neuroendocrinologic presentation. We report a two-year-six-month-old affected female infant and her five-month-old affected brother with a novel homozygous deletion in SLC3A1 and PREPL gene. Both of siblings had mild facial dysmorphism, hypotonia, feeding problems, failure to thrive, developmental delay. She also had dilated cardiomyopathy which differ from other reported patients...
April 7, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29553044/neonatal-features-of-the-prader-willi-syndrome-the-case-for-making-the-diagnosis-during-the-first-week-of-life
#2
Filiz Mine Çizmecioğlu, Jeremy Huw Jones, Wendy Forsyth Paterson, Sakina Kherra, Mariam Kourime, Ruth McGowan, M Guftar Shaikh, Malcolm Donaldson
OBJECTIVE: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. METHODS: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. RESULTS: Ninety patients (54 male: 36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%)...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29432237/hypoxic-ischemic-encephalopathy-and-other-neonatal-encephalopathies
#3
Hannah C Glass
PURPOSE OF REVIEW: Neonatal encephalopathy is the most common condition in neonates encountered by child neurologists. The etiology is most often global hypoxia-ischemia due to failure of cerebral perfusion to the fetus caused by uterine, placental, or umbilical cord compromise prior to or during delivery. Other etiologies of neonatal encephalopathy include ischemic stroke and intracranial hemorrhage, infection, developmental anomalies, and inborn errors of metabolism. RECENT FINDINGS: Therapeutic hypothermia is standard of care for the treatment of neonatal encephalopathy presumed to be caused by hypoxia-ischemia...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29359444/three-patients-with-schaaf-yang-syndrome-exhibiting-arthrogryposis-and-endocrinological-abnormalities
#4
Takuji Enya, Nobuhiko Okamoto, Yoshinori Iba, Tomoki Miyazawa, Mitsuru Okada, Shinobu Ida, Takuya Naruto, Issei Imoto, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto, Keisuke Sugimoto, Tsukasa Takemura
MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Patients 1 and 2, siblings born to healthy, non-consanguineous Japanese parents, showed generalized hypotonia, lethargy, severe respiratory difficulty, poor feeding, and multiple anomalies including arthrogryposis soon after birth. We carried out whole-exome sequencing, which detected a MAGEL2 mutation (c.1912C>T, p.Gln638*, heterozygous)...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28746920/assessing-the-clinical-utility-of-snp-microarray-for-prader-willi-syndrome-due-to-uniparental-disomy
#5
Stephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, Theresa Mihalic Mosher, Robert Pyatt, Shalini C Reshmi, Caroline Astbury, Scott E Hickey
Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28659150/early-diagnosis-and-care-is-achieved-but-should-be-improved-in-infants-with-prader-willi-syndrome
#6
Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper, Maithé Tauber
BACKGROUND: PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS: Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 and 2013 in France. RESULTS: Thirty-eight infants with PWS were born in 2013. The median age at diagnosis was 18 days. Birth incidence calculated for 2013 was 1/21,000 births...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28649320/food-allergy-in-a-child-with-de-novo-kat6a-mutation
#7
Varpu Elenius, Tuire Lähdesmäki, Marja Hietala, Tuomas Jartti
Crying combined with miscellaneous gastrointestinal symptoms are typical symptoms of infant with food allergy, but are also common among children with abnormal neurological development. Mutations in KAT6A gene is known to cause a syndrome characterized by developmental delay, hypotonia, cardiac defects, microcephaly, specific facial features and early feeding problems. However, these feeding problems have not earlier been specified. We present the first reported case of a DBPCFC confirmed food allergy in a child with KAT6A mutation whose feeding problems resolved with elimination diet...
2017: Clinical and Translational Allergy
https://www.readbyqxmd.com/read/28416785/a-novel-mutation-in-the-glycine-decarboxylase-gene-in-patient-with-non-ketotic-hyperglycinemia
#8
Engin Kose, Uluc Yis, Semra Hiz, Nur Arslan
Non-ketotic hyperglycinemia (NKH) is a rare inborn error of metabolism and is caused by a glycine cleavage system deficiency. Eighty-five percent of patients present with the neonatal type of NKH, the infants initially develop lethargy, seizures, and episodes of apnea, and most often death. Between 60-90% of cases are caused by mutations in the glycine decarboxylase (GLDC). We believed that more mutation reports especially for rare disease as NKH help to evaluate the genotype-phenotype relationship in patients with GLDC...
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28211977/1q21-3-deletion-involving-gatad2b-an-emerging-recurrent-microdeletion-syndrome
#9
REVIEW
Thipwimol Tim-Aroon, Natini Jinawath, Weerin Thammachote, Praweena Sinpitak, Anchalee Limrungsikul, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon
GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup-shaped ears, and clinodactyly...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#10
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27891281/septooptic-dysplasia-with-an-associated-arachnoid-cyst
#11
Skyler V McLaurin-Jiang, Julie K Wood, David F Crudo
A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27506196/prader-willi-syndrome-in-neonates-twenty-cases-and-review-of-the-literature-in-southern-china
#12
Ping Wang, Wei Zhou, Weiming Yuan, Longguang Huang, Ning Zhao, Xiaowen Chen
BACKGROUND: Prader-Willi syndrome is a rare genetic abnormality that can be challenging to diagnose early, but for which early interventions improve prognosis. METHODS: To improve understanding of Prader-Willi syndrome in neonates in Asia, we retrospectively analyzed the clinical records of 20 affected newborns diagnosed in the Department of Neonatology, Guangzhou Women and Children's Medical Center, Guangzhou, China from January 2007 to December 2014 and performed a review of the relevant literature...
August 9, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27486480/partial-monosomy14q-involving-foxg1-and-nova1-in-an-infant-with-microcephaly-seizures-and-severe-developmental-delay
#13
H Fryssira, E Tsoutsou, S Psoni, S Amenta, T Liehr, E Anastasakis, Ch Skentou, A Ntouflia, I Papoulidis, E Manolakos, N Chaliasos
BACKGROUND: FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly, seizures, hypotonia, developmental delay and corpus callosum agenesis. CASE PRESENTATION: We report a 6-month-old female infant, born at 38 weeks of gestation after in vitro fertilization, who presented with feeding difficulties, irritability and developmental delay from the first months of life...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27484419/-skin-to-skin-contact-and-breast-feeding-after-birth-not-always-without-risk
#14
P R Matthijsse, B A Semmekrot, K D Liem
Skin-to-skin contact after birth is propagated to facilitate breast-feeding and mother-child bonding. We describe two term infants with sudden unexpected postnatal collapse (SUPC) during skin-to-skin contact. The infants were found with abnormal colour, hypotonia and apnoea, in a prone position on the chest of their mothers, both of whom were primipara with a high BMI. After stimulation, both infants recovered completely. No specific potential cause, other than the position, could be found. These cases illustrate that skin-to-skin contact after birth is not without risk...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27471823/an-electronic-health-record-investigation-of-lenticulostriate-vasculopathy-features
#15
Jennifer Frankovich, Maximillian Egan, Talia Mahony, William Benitz, Gary Shaw
Objective  Lenticulostriate vasculopathy (LSV) is characterized by linear hyperechogenicities in the basal ganglia found on the head ultrasounds of infants. We reviewed electronic health records of infants with and without LSV to investigate whether physician dictations indicated symptoms which could reflect subtle basal ganglia injury. Study Design  In a case-control study, we analyzed data from 46 infants with LSV and 127 controls. Infants were stratified between term and preterm birth. Odds ratios (ORs) and 95% confidence intervals were calculated for tone abnormalities, apnea, feeding difficulties, seizures, and movement abnormalities in the presence of LSV...
February 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/27056029/parenteral-nutrition-solution-in-cerebrospinal-fluid-in-preterm-newborn-a-case-report-and-review-of-the-literature
#16
REVIEW
Monika Lachowska, Krzysztof Lachowski, Barbara Królak-Olejnik
INTRODUCTION: Percutaneously inserted central venous catheters (epicutaneo-cava-catheter - ECC) are widely used in neonatal intensive care, facilitating the parenteral nutrition and the treatment of critically ill newborns. This invasive procedure is regarded as safe and associated with low complication rate. Possible life-threatening complications may result from malpositioning of ECC. Paraspinal misplacement of ECC is one of the most serious complications. CASE PRESENTATION: The authors report a case of misplacement of ECC inserted via left saphenous vein for intravenous feeding...
July 12, 2016: Journal of Vascular Access
https://www.readbyqxmd.com/read/26855056/neonatal-severe-hyperparathyroidism-caused-by-homozygous-mutation-in-casr-a-rare-cause-of-life-threatening-hypercalcemia
#17
REVIEW
Heidi Murphy, Jessica Patrick, Eileen Báez-Irizarry, Yves Lacassie, Ricardo Gómez, Alfonso Vargas, Brian Barkemeyer, Sohit Kanotra, Regina M Zambrano
Neonatal severe hyperparathyroidism (NSHPT) is a rare, life-threatening condition that presents with severe hypercalcemia, hyperparathyroidism, and osteopenia in the newborn period. Treatment of NSHPT traditionally includes hydration and bisphosphonates; however newer calcimimetic agents, such as cinacalcet, are now being utilized to prevent or delay parathyroidectomy which is technically difficult in the newborn. Medical treatment success is related to calcium sensing receptor (CaSR) genotype. We report a 4-day-old infant who presented with hyperbilirubinemia, poor feeding, weight loss, severe hypotonia and was ultimately diagnosed with NSHPT...
April 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26575883/-clinical-characteristics-and-gene-mutation-analysis-of-one-pedigree-with-infantile-glycogen-storage-disease-type-ii
#18
Lei Zhang, Xiao-Heng Xu, Ji Wang, Si-Jin Zhang
The clinical data of 2 infants with infantile glycogen storage disease type II (GSD II) from one pedigree were collected. The method of dried blood spots (DBS) was applied to collect peripheral blood samples, and the activity of acid alpha-D-glucosidase (GAA) in leukocytes was measured. The coding region of GAA gene in this pedigree was amplified by polymerase chain reaction and then direct sequencing was used to analyze mutations in GAA gene. The two infants were twins, who were admitted to the hospital due to feeding difficulties, generalized muscle weakness and hypotonia, cardiomegaly, and cardiac insufficiency when they were 10 months old...
November 2015: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/26321353/-congenital-myotonic-dystrophy-type-i-in-a-very-premature-neonate-ethical-concerns
#19
K Van Den Hende, S Durand, R Mesnage, A Filleron, G Cambonie
UNLABELLED: The congenital form of myotonic dystrophy type I (CDM1) corresponds to a>1500 expansion of an unstable trinucleotide (CTG) repeat. Two prognostic factors predict the risk of death in early infancy: maturity of less than 35 weeks of gestation and neonatal invasive ventilation for more than 30 days. OBSERVATION: The case of a 29-week-old premature female infant, conceived by in vitro fertilization, is reported. Generalized hypotonia led to the diagnosis of the disease...
October 2015: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/26310554/-analysis-of-clinical-features-of-6-patients-with-infantile-type-glycogen-storage-disease-type-ii
#20
Juan Ding, Yu Huang, Haipo Yang, Qingyou Zhang, Xinlin Hou, Xueqin Liu, Yanling Yang, Hui Xiong
OBJECTIVE: To summarize clinical features and diagnosis of Chinese infantile patients with glycogen storage disease type II (GSD II). METHOD: Six infant patients with GSD II diagnosed from January 2012 to June 2014 in the Department of Pediatrics, Peking University First Hospital were enrolled into this study. Clinical information of the 6 patients, including clinical manifestation, blood biochemistry, chest X-ray, echocardiogram, electrocardiogram, acid alpha-glucosidase (GAA) activity and GAA gene mutation analysis by direct sequencing of polymerase chain reaction (PCR) product were reviewed...
June 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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