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Macrocephaly

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Minimizing blood loss in hemispherectomy for hemimegalencephaly in low-weight infants: technical note.

Sandeep Sood, Eishi Asano, Aimee Luat,

INTRODUCTION:Drug-resistant seizures due to hemimegalencephaly in neonates and infants are a unique surgical and anesthesia challenge. While early surgery in these patients may predict a better seizure control, a lower body weight, limited blood volume, and surgical blood loss may make hemispherectomy prohibitive. METHODS:Two infants (weight, 8.7 kg and 3.7 ... Read more >>

Childs Nerv Syst (Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery)
[2020, 36(4):841-845]

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Macrocephaly Secondary to Superior Vena Cava Syndrome.

Pouya Entezami, Amanda Custozzo, Matthew Adamo,

Cardiac defects in neonates are often associated with neurological or neuroanatomical anomalies. We present a patient who developed macrocephaly secondary to superior vena cava syndrome, resultant from repair of her congenital tetralogy of Fallot. She was managed conservatively with serial imaging and close observation from the neurosurgical aspect, and her ... Read more >>

Pediatr Neurosurg (Pediatric neurosurgery)
[2020, 55(1):42-45]

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Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes.

Wei Zhang, Li Ma, Mei Yang, Qiang Shao, Jian Xu, Zhipeng Lu, Zhen Zhao, Rong Chen, Yang Chai, Jian-Fu Chen,

Dysregulation of early neurodevelopment is implicated in macrocephaly/autism disorders. However, the mechanism underlying this dysregulation, particularly in human cells, remains poorly understood. Mutations in the small GTPase gene RAB39b are associated with X-linked macrocephaly, autism spectrum disorder (ASD), and intellectual disability. The in vivo roles of RAB39b in the brain ... Read more >>

Genes Dev. (Genes & development)
[2020, 34(7-8):580-597]

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Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.

Yuka Yotsumoto, Atsuko Harada, Jiro Tsugawa, Yoshihiro Ikura, Hidetsuna Utsunomiya, Satoko Miyatake, Naomichi Matsumoto, Yonehiro Kanemura, Tomoko Hashimoto-Tamaoki,

A heterozygous loss-of-function mutation of the PTEN gene, one of the tumor suppressor genes, causes a wide variety of disorders, ranging from macrocephaly/autism syndrome to PTEN hamartoma tumor syndrome, including Cowden disease that causes thyroid and breast cancer mainly in the adolescence and young adult generation. An 8-month-old male infant ... Read more >>

Mol Clin Oncol (Molecular and Clinical Oncology)
[2020, 12(4):329-335]

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Disorders Caused by Genetic Mosaicism.

Ute Moog, Ute Felbor, Cristina Has, Birgit Zirn,

BACKGROUND:Genetic mosaics arise through new mutations occurring after fertiliza- tion (i.e., postzygotic mutations). Mosaics have been described in recent years as the cause of many different disorders; many of these are neurocutaneous diseases and syndromal developmental disorders, each with a characteristic phenotype. In some of these disorders, there is a ... Read more >>

Dtsch Arztebl Int (Deutsches Arzteblatt international)
[2020, 116(8):119-125]

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The Use of Virtual Surgical Planning for Reduction Cranioplasty.

Eli Saleh, Alexander Govshievich, Julian Justino, Alexander G Weil, Daniel E Borsuk,

Hydrocephalic macrocephaly may occur as a result of untreated hydrocephalus. Reduction cranioplasty is the treatment of choice for these patients when the weight of their head interferes with normal development and negatively impacts quality of life. However, this procedure has several associated risks, including prolonged anesthesia, significant blood loss, and ... Read more >>

Plast Reconstr Surg Glob Open (Plastic and Reconstructive Surgery Global Open)
[2020, 8(1):e2565]

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Measure thrice, cut twice: On the benefit of reoperation for failed pediatric epilepsy surgery.

Nathan T Cohen, Julie M Ziobro, Dewi F Depositario-Cabacar, Kathryn Havens, Amy Kao, John M Schreiber, Tammy N Tsuchida, Tesfaye G Zelleke, Chima O Oluigbo, William D Gaillard,

OBJECTIVE:To determine whether clinical outcomes are improved after repeat surgery for medically refractory epilepsy in children. METHODS:This is a single-center retrospective cohort analysis of all patients who received repeat resective surgery for ongoing seizures from 2000-2017. From a total of 251 consecutive individual epilepsy surgical patients for focal resection, 53 ... Read more >>

Epilepsy Res. (Epilepsy research)
[2020, 161:106289]

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Encephalocraniocutaneous lipomatosis: A rare congenital neurocutaneous syndrome.

Swasti Pathak, Anju Garg, Jyoti Kumar,

Encephalocraniocutaneous lipomatosis (ECCL) is a rare sporadic congenital neurocutaneous disorder with quite specific clinical features and neuroimaging pattern that is well seen on MR imaging. ... Read more >>

Radiol Case Rep (Radiology case reports)
[2020, 15(5):576-579]

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Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.

Esra Isik, Ozguc Semih Simsir, Asli Ece Solmaz, Huseyin Onay, Tahir Atik, Ayca Aykut, Asude Durmaz, Ozgur Cogulu, Ferda Ozkinay,

INTRODUCTION:PTEN gene mutations are responsible for the PTEN hamartoma tumor syndrome (PHTS). In this study, clinical and molecular findings of patients carrying PTEN mutations are presented. Our aim is to contribute to genotype-phenotype correlation and define the most common findings of the syndrome in pediatric patients. METHODS AND MATERIALS:Ten molecularly confirmed PHTS ... Read more >>

Ann. Hum. Genet. (Annals of human genetics)
[2020, :]

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A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly.

Sachiko Ohori, Satomi Mitsuhashi, Revital Ben-Haim, Eli Heyman, Toru Sengoku, Kazuhiro Ogata, Naomichi Matsumoto,

p21-activated kinases (PAKs) are protein serine/threonine kinases stimulated by Rho-family p21 GTPases such as CDC42 and RAC. PAKs have been implicated in several human disorders, with pathogenic variants in PAK3 associated with intellectual disability and several PAK members, especially PAK1 and PAK4, overexpressed in human cancer. Recently, de novo PAK1 ... Read more >>

J. Hum. Genet. (Journal of human genetics)
[2020, 65(5):481-485]

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Cytoplasmic-predominant Pten increases microglial activation and synaptic pruning in a murine model with autism-like phenotype.

Nicholas Sarn, Ritika Jaini, Stetson Thacker, Hyunpil Lee, Ranjan Dutta, Charis Eng,

Germline mutations in PTEN account for ~10% of cases of autism spectrum disorder (ASD) with coincident macrocephaly. To explore the importance of nuclear PTEN in the development of ASD and macrocephaly, we previously generated a mouse model with predominantly cytoplasmic localization of Pten (Ptenm3m4/m3m4).Cytoplasmic predominant Pten localization results in a ... Read more >>

Mol. Psychiatry (Molecular psychiatry)
[2020, :]

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mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.

Camila A B Garcia, Simone C S Carvalho, Xiaoxu Yang, Laurel L Ball, Renee D George, Kiely N James, Valentina Stanley, Martin W Breuss, Ursula Thomé, Marcelo V Santos, Fabiano P Saggioro, Luciano Neder Serafini, Wilson A Silva, Joseph G Gleeson, Hélio R Machado,

Objectives:Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular functions such as growth and proliferation, metabolism, autophagy, death, and survival. This study was aimed at identifying specific variants ... Read more >>

Epilepsia Open (Epilepsia open)
[2020, 5(1):97-106]

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One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review.

Saleem A Alsaedi, Oday Qurashi, Mohammed Bajunaid, Abdullah A Altalhi, Aiman M Shawli,

PIK3CA-related overgrowth spectrum (PROS) is an umbrella that includes a broad range of rare disorders, ranging from isolated digit enlargement to extensive overgrowth of the limbs, abdomen, or brain. One of these disorders is megalencephaly capillary malformation polymicrogyria syndrome (MCAP), which is characterized by cutaneous capillary malformations, megalencephaly, cortical brain ... Read more >>

Cureus (Cureus)
[2020, 12(1):e6586]

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Brain morphological analysis in PTEN hamartoma tumor syndrome.

Tadashi Shiohama, Jacob Levman, Lana Vasung, Emi Takahashi,

PTEN hamartoma tumor syndrome (PHTS) is a spectrum of hereditary cancer syndromes caused by germline mutations in PTEN. PHTS is of high interest, because of its high rate of neurological comorbidities including macrocephaly, autism spectrum disorder, and intellectual dysfunction. Since detailed brain morphology and connectivity of PHTS remain unclear, we ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.

Pedro H Lucena, Giulia Armani-Franceschi, Ana Cecília Bispo-Torres, Igor D Bandeira, Mariana F G Lucena, Igor Maldonado, Marielza F Veiga, Diego Miguel, Rita Lucena,

Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of KPTN gene variation, previously described in nine subjects from four interlinked families from an ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(4):762-767]

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Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.

Jair Tenorio, Julián Nevado, Antonio González-Meneses, Pedro Arias, Irene Dapía, Carlos A Venegas-Vega, María Calvente, Alicia Hernández, Leandro Landera, Sergio Ramos, , Juan Cruz Cigudosa, Luis A Pérez-Jurado, Pablo Lapunzina,

The proximal 19p13.3 microdeletion/microduplication (prox19p13.3del/dup) syndrome is a recently described disorder with common clinical features including developmental delay, intellectual disability, speech delay, facial dysmorphic features with ear defects, anomalies of the hands and feet, umbilical hernia and hypotonia. While deletions are associated with macrocephaly, patients with duplications have microcephaly. The ... Read more >>

Clin. Genet. (Clinical genetics)
[2020, 97(3):467-476]

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A Novel Splice-site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Turkish Patient.

A Türkyılmaz, O Ünver, G Ekinci, D Türkdoğan,

Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with cerebellar ataxia and spasticity. An 8-month-old boy was admitted to our pediatric neurology clinic with macrocephaly. His brain magnetic resonance ... Read more >>

Balkan J. Med. Genet. (Balkan journal of medical genetics : BJMG)
[2019, 22(2):89-92]

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Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.

J Paprocka, B Rzepka-Migut, N Rzepka, A Jezela-Stanek, E Morava,

Alexander disease (AxD) is a rare autosomal dominant leukodystrophy with three clinical subtypes: infantile, juvenile and adult. Forms differ by age of symptoms occurrence and the clinical presentation. Although recent data suggest considering only two subtypes: type I (infantile onset with lesions extending to the cerebral hemispheres); type II (adult ... Read more >>

Balkan J. Med. Genet. (Balkan journal of medical genetics : BJMG)
[2019, 22(2):77-82]

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Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling.

Steven D Klein, Julian A Martinez-Agosto,

BACKGROUND:We have previously described mosaic mutations in the RNase IIIb domain of DICER1that display global developmental delays, lung cysts, somatic overgrowth, macrocephaly and Wilms tumor. This constellation of phenotypes was classified as GLOW syndrome. Due to the phenotypic overlap between GLOW and syndromes caused by mutations in the PI3K/AKT/mTOR pathway, ... Read more >>

Microrna (MicroRNA (Shariqah, United Arab Emirates))
[2020, 9(1):70-80]

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Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.

Lamis Yehia, Marilyn Seyfi, Lisa-Marie Niestroj, Roshan Padmanabhan, Ying Ni, Thomas W Frazier, Dennis Lal, Charis Eng,

Importance:PTEN is among the most common autism spectrum disorder (ASD)-predisposition genes. Germline PTEN mutation carriers can develop malignant neoplasms and/or neurodevelopmental disorders such as ASD and developmental delay. Why a single gene contributes to disparate clinical outcomes, even in patients with identical PTEN mutations, remains unclear. Objective:To investigate the association ... Read more >>

JAMA Netw Open (JAMA network open)
[2020, 3(1):e1920415]

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PTEN in Hereditary and Sporadic Cancer.

Joanne Ngeow, Charis Eng,

Germline pathogenic phosphatase and tensin homolog (PTEN) mutations cause PTEN hamartoma tumor syndrome (PHTS), characterized by various benign and malignant tumors of the thyroid, breast, endometrium, and other organs. Patients with PHTS may present with other clinical features such as macrocephaly, intestinal polyposis, cognitive changes, and pathognomonic skin changes. Clinically, ... Read more >>

Cold Spring Harb Perspect Med (Cold Spring Harbor perspectives in medicine)
[2020, 10(4):]

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A journey through formation and malformations of the neo-cortex.

Anjuna Reghunath, Rohini Gupta Ghasi,

PURPOSE:Malformations of cortical development (MCD) are a heterogeneous group of disorders characterized by abnormal structure of the cerebral cortex. MCDs are an important cause of development delay and intractable epilepsy in children. In this review, we explore the embryological stages of development of neo-cortex, the imageology of various malformations which ... Read more >>

Childs Nerv Syst (Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery)
[2020, 36(1):27-38]

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Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients.

Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka,

Background:Autism spectrum disorders (ASD) and intellectual disabilities (ID) are heterogeneous and complex developmental diseases with significant genetic backgrounds and overlaps of genetic susceptibility loci. Copy number variants (CNVs) are known to be frequent causes of these impairments. However, the clinical heterogeneity of both disorders causes the diagnostic efficacy of CNV ... Read more >>

PeerJ (PeerJ)
[2019, 7:e7979]

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

Maria J Nabais Sá, Geniver El Tekle, Arjan P M de Brouwer, Sarah L Sawyer, Daniela Del Gaudio, Michael J Parker, Farah Kanani, Marie-José H van den Boogaard, Koen van Gassen, Margot I Van Allen, Klaas Wierenga, Gabriela Purcarin, Ellen Roy Elias, Amber Begtrup, Jennifer Keller-Ramey, Tiziano Bernasocchi, Laurens van de Wiel, Christian Gilissen, Hanka Venselaar, Rolph Pfundt, Lisenka E L M Vissers, Jean-Philippe P Theurillat, Bert B A de Vries,

Recurrent somatic variants in SPOP are cancer specific; endometrial and prostate cancers result from gain-of-function and dominant-negative effects toward BET proteins, respectively. By using clinical exome sequencing, we identified six de novo pathogenic missense variants in SPOP in seven individuals with developmental delay and/or intellectual disability, facial dysmorphisms, and congenital ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2020, 106(3):405-411]

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Increased Neural Progenitor Proliferation in a hiPSC Model of Autism Induces Replication Stress-Associated Genome Instability.

Meiyan Wang, Pei-Chi Wei, Christina K Lim, Iryna S Gallina, Sara Marshall, Maria C Marchetto, Frederick W Alt, Fred H Gage,

The association between macrocephaly and autism spectrum disorder (ASD) suggests that the mechanisms underlying excessive neural growth could contribute to ASD pathogenesis. Consistently, neural progenitor cells (NPCs) derived from human induced pluripotent stem cells (hiPSCs) of ASD individuals with early developmental brain enlargement are inherently more proliferative than control NPCs. ... Read more >>

Cell Stem Cell (Cell stem cell)
[2020, 26(2):221-233.e6]

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