56,913 results match your criteria malformation type

Joint involvement in Noonan syndrome.A retrospective paediatric descriptive study.

Joint Bone Spine 2021 Sep 14:105270. Epub 2021 Sep 14.

Rheumatology Department, CHU Cavale Blanche, Center of Autoimmune Rare Diseases (CERAINO), Brest, France; UMR1227, INSERM, Université de Bretagne Occidentale, Brest, France. Electronic address:

Objectives: Noonan syndrome is a rare genetic disorder characterized mainly by congenital heart disease, occasional intellectual disability, and varied orthopaedic, rheumatological and haematologic anomalies. Despite potentially serious functional consequences, joint involvement has been rarely studied in the literature. Our objective was to perform a retrospective study evaluating the prevalence and characteristics of joint involvement in Noonan syndrome. Read More

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September 2021

Complex radial polydactyly in a Chinese family: inclusion of triphalangism, triplication, and syndactyly.

Ann Transl Med 2021 Aug;9(16):1296

Hand Surgery Department, Ningbo No. 6 Hospital, Ningbo, China.

Background: Few studies have investigated families in which multiple individuals over three or more generations are affected by radial polydactyly and syndactyly. This report describes an extremely rare family in which nine individuals across six generations were affected by complex radial polydactyly.

Methods: We investigated a six-generation pedigree with radial polydactyly including triplication, triphalangism, hypoplasia, and symphalangism. Read More

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Treatment strategies for mosaic overgrowth syndromes of the PI3K-AKT-mTOR pathway.

Br Med Bull 2021 Sep 17. Epub 2021 Sep 17.

Université de Paris, Paris, France.

Introduction Or Background: Mosaic overgrowth syndromes (OS) are a proteiform ensemble of rare diseases displaying asymmetric overgrowth involving any tissue type, with degrees of severity ranging from isolated malformation to life-threatening conditions such as pulmonary embolism. Despite discordant clinical presentations, all those syndromes share common genetic anomalies: somatic mutations of genes involved in cell growth and proliferation. The PI3K-AKT-mTOR signaling pathway is one of the most prominent regulators of cell homeostasis, and somatic oncogenic mutations affecting this pathway are responsible for mosaic OS. Read More

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September 2021

Motor Organization in Schizencephaly: Outcomes of Transcranial Magnetic Stimulation and Diffusion Tensor Imaging of Motor Tract Projections Correlate with the Different Domains of Hand Function.

Biomed Res Int 2021 6;2021:9956609. Epub 2021 Sep 6.

Department of Physical Medicine and Rehabilitation, Jeonbuk National University Medical School, Jeonju, Republic of Korea.

Objective: Schizencephaly is a rare congenital malformation that causes motor impairment. To determine the treatment strategy, each domain of the motor functions should be appropriately evaluated. We correlated a color map of diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS) with the hand function test (HFT) to identify the type of hand function that each test (DTI and TMS) reflects. Read More

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September 2021

Mutations in the adenosine deaminase ADAR1 that prevent endogenous Z-RNA binding induce Aicardi-Goutières-syndrome-like encephalopathy.

Immunity 2021 Sep;54(9):1976-1988.e7

Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University, Suita, Osaka 565-0871, Japan; The Genome Editing Research and Development Center, Graduate School of Medicine, Osaka University, Suita, Osaka 565-0871, Japan. Electronic address:

Mutations in the adenosine-to-inosine RNA-editing enzyme ADAR1 p150, including point mutations in the Z-RNA recognition domain Zα, are associated with Aicardi-Goutières syndrome (AGS). Here, we examined the in vivo relevance of ADAR1 binding of Z-RNA. Mutation of W197 in Zα, which abolished Z-RNA binding, reduced RNA editing. Read More

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September 2021

Magnetic Resonance Imagery Findings in Androgen Insensitivity: A case series.

Sultan Qaboos Univ Med J 2021 Aug 29;21(3):472-476. Epub 2021 Aug 29.

Sapthagiri Institute of Medical Science and Research Centre, Bengaluru, Karnataka, India.

Androgen insensitivity syndrome (AIS) is a sex-development disorder resulting from mutations in the androgen receptor. In its complete form, patients are genetically male but phenotypically female, presenting with primary amenorrhea. We report three cases of AIS highlighting the multifaceted role of magnetic resonance imaging (MRI) for presurgical planning by evaluating location and type of gonads and detecting complications. Read More

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Arnold-Chiari Malformation: Core Concepts.

Neonatal Netw 2021 Aug;40(5):313-320

Arnold-Chiari malformation (ACM), a defect that involves downward displacement of the hindbrain and herniation of the cerebellar vermis, tonsils, pons, medulla, and fourth ventricle through the foramen magnum, is the most complex of the 4 types of Chiari malformations. Unique to the other types of Chiari malformations, approximately 95 percent of infants with ACM also present with an associated myelomeningocele (MMC), the most severe form of spina bifida. Among affected infants, those with symptomatic comorbidities incur a significantly higher morbidity and mortality risk. Read More

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Age-specific effect of fresh versus frozen embryo transfer on fetal anomalies or intrauterine growth restriction rate.

Taiwan J Obstet Gynecol 2021 Sep;60(5):831-835

Department of Research & Development, Taiji Clinic, Taipei, Taiwan. Electronic address:

Objective: To compare the prevalence of congenital fetal anomalies or intrauterine fetal growth restriction (IUGR) diagnosed prenatally between two in-vitro fertilization (IVF) methods-fresh embryo transfer (ET) and frozen embryo transfer (FET).

Materials And Methods: We retrospectively reviewed medical records of patients that had conceived via IVF, and had a fetal anatomical scan performed at Taiji Clinic between 2015 and 2019. The prevalence of fetal anomalies or IUGR between both IVF methods were compared. Read More

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September 2021

Mediator complex proximal Tail subunit MED30 is critical for Mediator core stability and cardiomyocyte transcriptional network.

PLoS Genet 2021 Sep 10;17(9):e1009785. Epub 2021 Sep 10.

Department of Medicine, University of California, San Diego, California, United States of America.

Dysregulation of cardiac transcription programs has been identified in patients and families with heart failure, as well as those with morphological and functional forms of congenital heart defects. Mediator is a multi-subunit complex that plays a central role in transcription initiation by integrating regulatory signals from gene-specific transcriptional activators to RNA polymerase II (Pol II). Recently, Mediator subunit 30 (MED30), a metazoan specific Mediator subunit, has been associated with Langer-Giedion syndrome (LGS) Type II and Cornelia de Lange syndrome-4 (CDLS4), characterized by several abnormalities including congenital heart defects. Read More

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September 2021

The First Successful Endovascular Management of Posterior Fossa Arteriovenous Malformations in Nepal: Case Series.

JNMA J Nepal Med Assoc 2020 Dec 31;58(232):1089-1092. Epub 2020 Dec 31.

Department of Anaesthesiology, Institute of Medicine, Tribhuvan University, Maharajgunj, Kathmandu, Nepal.

Posterior fossa arteriovenous malformations represent 7-15% of all intracranial AVMs. They carry a higher risk of rupture than supratentorial AVMs and are associated with considerable rates of morbidity and mortality. Available treatment options include conservative management, microsurgical resection, radiosurgery, endovascular embolization, or combinations of these modalities. Read More

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December 2020

Prevalence of Tracheoesophageal Anomaly Cases among Neonates Undergoing Surgery in a Tertiary Care Children’s Hospital.

JNMA J Nepal Med Assoc 2020 Oct 15;58(230):736-739. Epub 2020 Oct 15.

Department of Surgery, Kanti Children’s Hospital, Maharajgunj, Kathmandu, Nepal.

Introduction: Tracheo-oesophageal anomaly is the abnormal communication between trachea and oesophagus. The most common type of tracheo-oesophageal anomaly is oesophageal atreasia with distal tracheo oesophageal fistula. Tracheo-oesophageal anomaly is a common neonatal problem requiring an urgent surgery. Read More

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October 2020

Prevalence of Laryngomalacia among Young Children Presenting with Stridor in a Tertiary Care Hospital.

Apar Pokharel

JNMA J Nepal Med Assoc 2020 Oct 15;58(230):712-716. Epub 2020 Oct 15.

Department of Ear, Nose, and Throat, and Head and Neck Surgery, College of Medical Sciences, Bharatpur, Nepal.

Introduction: Laryngomalacia is one of the most common causes of stridor in young children. It can be a serious concern to both parents and caregivers. The main objective of this study is to find the prevalence of laryngomalacia among young children presenting with stridor in a tertiary care hospital in central Nepal. Read More

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October 2020

Split Cord Malformation in a Thoroughbred Horse.

J Comp Pathol 2021 Aug 12;187:68-74. Epub 2021 Aug 12.

Department of Veterinary Pathology, Bacteriology and Poultry Diseases, Ghent University, Merelbeke, Belgium.

We report a 9-year-old Thoroughbred gelding that had sudden onset lameness of the right forelimb with episodes of lateral decubitus and generalized pain after completion of a normal training session. The clinical signs subsequently became less pronounced with only mild right forelimb lameness. However, after further orthopaedic examination, it developed severe, acute ataxia and paraplegia, the Schiff-Sherrington phenomenon and risus sardonicus. Read More

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Cochlear Implantation in Inner Ear Malformations: Considerations Related to Surgical Complications and Communication Skills.

ORL J Otorhinolaryngol Relat Spec 2021 Sep 9:1-8. Epub 2021 Sep 9.

Department of Otolaryngology, Faculty of Medicine, Medipol University, Istanbul, Turkey.

Introduction: There are particular challenges in the implantation of malformed cochleae, such as in cases of facial nerve anomalies, cerebrospinal fluid (CSF) leaks, erroneous electrode insertion, or facial stimulation, and the outcomes may differ depending on the severity of the malformation. The aim of this study was to assess the impact of inner ear malformations (IEMs) on surgical complications and outcomes of cochlear implantation.

Methods: In order to assess the impact of IEMs on cochlear implant (CI) outcomes, 2 groups of patients with similar epidemiological parameters were selected from among 863 patients. Read More

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September 2021

Patterns of prophylactic anticonvulsant use in spontaneous intracerebral and subarachnoid hemorrhage: results of a practitioner survey.

Neurol Sci 2021 Sep 8. Epub 2021 Sep 8.

Department of Neurosurgery, Pennsylvania State University College of Medicine, Penn State Health Milton S. Hershey Medical Center, 30 Hope Drive, EC110, Hershey, PA, 17033, USA.

Background: The use of prophylactic anti-seizure medications (ASMs) in the management of patients with spontaneous intracerebral hemorrhage (sICH) and aneurysmal subarachnoid hemorrhage (aSAH) is controversial.

Objective: The purpose of this survey was to better characterize the current state of prophylactic ASM use in sICH and aSAH in North America.

Methods: US and Canadian neurosurgeons, neurologists, and interventional neuroradiologists with an interest in or expertise in the management of neurovascular disease were surveyed using an electronic survey tool. Read More

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September 2021

Accessory breast cancer in the inframammary region: a case report and review of the literature.

Surg Case Rep 2021 Sep 8;7(1):203. Epub 2021 Sep 8.

Department of Digestive, Breast and Thyroid Surgery, Kagoshima University Hospital, Kagoshima-shi, Japan.

Background: Although a few cases of accessory breast cancer (ABC) have been reported, most were in the axillary region. We encountered an extremely rare case of ABC in the inframammary region (IMR).

Case Presentation: The patient was a 68-year-old postmenopausal woman who had noticed a congenital accessory nipple in her left IMR with slight, occasional discharge 20 years ago. Read More

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September 2021

Ileal duplication cyst with giant polypoidal gastric heterotropia.

BMJ Case Rep 2021 Sep 7;14(9). Epub 2021 Sep 7.

Radiodiagnosis, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India

Enteric duplication cysts (EDCs) are congenital malformations of the gastrointestinal tract. EDCs can present as tubular or spherical cystic lesions of the abdomen. The tubular variant of EDC arises as an outpouching from the bowel wall, whereas the spherical variant rarely shows bowel communication. Read More

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September 2021

First Report of Causing Brown Blotch Disease in in China.

Plant Dis 2021 Sep 7. Epub 2021 Sep 7.

No. 1, Zhimin Road, Nanchang, Jiangxi, ChinaNanchang, China, 330045;

(previously known as ) is one of the most frequently cultivated and consumed edible mushrooms in China. In October 2020, brown blotch disease was observed on the pileus of at a mushroom factory in Ganzhou (25.74°N; 114. Read More

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September 2021

The Versatility of the Free Vastus Lateralis Muscle Flap: Orbital Reconstruction After Removal of Complex Vascular Malformation in a Pediatric Patient.

Front Pediatr 2021 19;9:703330. Epub 2021 Aug 19.

Plastic and Maxillofacial Surgery Unit, Bambino Gesù Children Hospital (IRCCS), Rome, Vatican City.

Vascular orbital lesions in pediatric population represent a demanding therapeutic challenge which requires a multidisciplinary team. In severe cases, orbital enucleation can be considered. Surgical management of enucleated orbital region in children, differently from the adults, represents a challenging procedure owing to the intrinsic relation between volume replacement and normal orbital growth. Read More

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A neonate with Klippel-Trénaunay syndrome: a case report.

J Med Case Rep 2021 Sep 7;15(1):447. Epub 2021 Sep 7.

Department of Surgery, Faculty of Clinical Medicine and Dentistry, Kampala International University Western Campus, Ishaka-Bushenyi, Uganda.

Background: Klippel-Trénaunay syndrome is a rare congenital capillary-lymphatic-venous condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft-tissue hypertrophy. It has a very low incidence of about 1:100,000.

Case Presentation: We report the case of 21-day-old neonate Black African female (born in Uganda) with Klippel-Trénaunay syndrome who presented with macrodactyly and ectrodactyly on the left foot, as well as numerous port wine stains on the left thoracoabdominal region and anteroposterior left lower limb. Read More

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September 2021

Congenital malformation and hemoglobin A1c in the first trimester among Japanese women with pregestational diabetes.

J Obstet Gynaecol Res 2021 Sep 6. Epub 2021 Sep 6.

Department of Obstetric Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.

Aim: To investigate the incidence of major congenital malformations in Japanese women with pregestational diabetes, and to determine the cutoff value of hemoglobin A1c (HbA1c) in the first trimester associated with congenital malformations.

Methods: This retrospective cohort study included singleton pregnancies in Japanese women with pregestational diabetes, including type 1 and type 2 diabetes, and specific types of diabetes due to other causes. The primary outcome was the incidence of major congenital malformations. Read More

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September 2021

[Analysis of clinical manifestation and a mosaic frameshift variant of the KMT2D gene in a Chinese patient with Kabuki syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Sep;38(9):861-864

Prenatal Diagnostic Center, Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong 523120, China.

Objective: To explore the genotype-phenotype correlation in a child with Kabuki syndrome type 1 (KS1) caused by a mosaic frameshift variant of KMT2D gene.

Methods: Trio-based whole exome sequencing (WES) was carried for the patient and her parents. Candidate variant was verified by Sanger sequencing. Read More

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September 2021

Long-term ketamine administration induces bladder damage and upregulates autophagy-associated proteins in bladder smooth muscle tissue.

Environ Toxicol 2021 Sep 6. Epub 2021 Sep 6.

School of Forensic Medicine, China Medical University, Shenyang, China.

Long-term ketamine abuse can cause significant lower urinary tract symptoms in humans, termed ketamine-associated cystitis (KC). Here, we established a model of long-term (6 months) ketamine administration in wild-type (C57BL/6) mice. We elucidated the pathological effects of ketamine in the bladder and investigated changes in autophagy-associated protein expression (i. Read More

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September 2021

Extra corporeal membrane oxygenation support for neonatal vein of Galen aneurysmal malformation: Case report.

J Neonatal Perinatal Med 2021 Aug 28. Epub 2021 Aug 28.

Department of Pediatric Critical Care, Cleveland Clinic, Cleveland, OH, USA.

Background: The vein of Galen aneurysm (VGAM) is the most common type of arteriovenous malformation in the neonate. These neonates commonly present with high output cardiac failure that may be associated with pulmonary hypertension. The medical management and stabilization of these neonates can be challenging before staged transarterial embolization of the aneurysm is undertaken. Read More

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Incidental discovery of duplicated inferior vena cava in a septuagenarian: the radiologist's viewpoint.

Radiol Case Rep 2021 Nov 26;16(11):3196-3200. Epub 2021 Aug 26.

Department of Radiology, University Hospital of Cocody -Abidjan (RCI).

Duplication of the inferior vena cava is a rare malformation, normally without clinical impact, explained by abnormal development and regression of certain segments of the venous system during embryonic life. However, its presence and type should be systematically reported in the radiological report because of its potential implications for diagnostic and interventional procedures. This observation describes the case of a 77-year-old man with a complete asymmetric duplication of the inferior vena cava (type III IVC according to Natsis) that was incidentally discovered on CT-scan. Read More

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November 2021

Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern.

Neuromuscul Disord 2021 Jul 1. Epub 2021 Jul 1.

Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland.

Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement. Read More

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Orthodontic-orthognathic surgical treatment may not be a major risk factor for gingival recession.

J Evid Based Dent Pract 2021 09 18;21(3):101613. Epub 2021 Jul 18.

Article Title And Bibliographic Information: Mota de Paulo JP, Herbert de Oliveira Mendes F, Gonçalves Filho RT, Marçal FF. Combined Orthodontic-Orthognathic Approach for Dentofacial Deformities as a Risk Factor for Gingival Recession: A Systematic Review. J Oral Maxillofac Surg. Read More

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September 2021

Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations.

Orphanet J Rare Dis 2021 Sep 3;16(1):372. Epub 2021 Sep 3.

Department of Molecular Genetics and Microbiology, Duke University Medical Center, 265 CARL Bldg., Box #3175 DUMC, Durham, NC, 27710, USA.

Background: Vascular malformations in the central nervous system are difficult to monitor and treat due to their inaccessible location. Angiogenic and inflammatory proteins are secreted into the bloodstream and may serve as useful biomarkers for identifying patients at risk for complications or with certain disease phenotypes.

Methods: A validated multiplex protein array consisting of 26 angiogenic and inflammatory biomarkers (Angiome) was assessed in plasma isolated from healthy controls and patients with either sporadic brain arteriovenous malformation (BAVM), familial cerebral cavernous malformation (CCM), or hereditary hemorrhagic telangiectasia (HHT). Read More

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September 2021

Longitudinal scoliosis behavior in Chiari malformation with and without syringomyelia.

J Neurosurg Pediatr 2021 Sep 3:1-7. Epub 2021 Sep 3.

5Department of Neurosurgery, Washington University, St. Louis, Missouri.

Objective: The objective of this study was to understand the natural history of scoliosis in patients with Chiari malformation type I (CM-I) with and without syringomyelia.

Methods: A retrospective review of data was conducted. Patients with CM-I were identified from a cohort of 14,118 individuals age 18 years or younger who had undergone MRI over an 11-year period at the University of Michigan. Read More

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September 2021

Ovarian inguinal hernia - a possibility in MURCS syndrome.

J Ovarian Res 2021 Sep 3;14(1):114. Epub 2021 Sep 3.

Department of Transfusion Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Background: Inguinal hernia containing ovary and fallopian tube can be found in paediatric population and is a rare finding in women of reproductive age group. Most of the cases are associated with congenital abnormalities of the female genital tract.

Case Presentation: A 20 year old female presented with right reducible inguinal hernia, primary amenorrhea and normal secondary sexual characteristics. Read More

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September 2021