491 results match your criteria Compound Presentations


Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation.

Eur J Hum Genet 2022 May 31. Epub 2022 May 31.

National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.

Congenital disorders of glycosylation (CDG) is a group inherited disorders. It is characterized by multi-organ dysfunction with significant morbidity and mortality. MAN2B2-CDG caused by pathogenic variants in the MAN2B2 gene was a rare CDG. Read More

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Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.

Front Immunol 2022 3;13:869728. Epub 2022 May 3.

Comprehensive Health Research Centre (CHRC), NOVA Medical School, Nova University of Lisbon, Lisbon, Portugal.

DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Read More

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Afatinib for the Treatment of Non-Small Cell Lung Cancer Harboring Uncommon Mutations: An Updated Database of 1023 Cases Brief Report.

Front Oncol 2022 28;12:834704. Epub 2022 Apr 28.

City of Hope National Medical Center, Los Angeles, CA, United States.

Introduction: Previously, we developed a database of 693 patients with NSCLC and uncommon mutations treated with afatinib. Here, we provide an update of >1000 patients, with more data on specific mutations.

Methods: Patients were identified from a prospective database developed by Boehringer Ingelheim and literature review. Read More

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A novel variant site of Alstrom syndrome in a Chinese child: a case report.

Transl Pediatr 2022 Apr;11(4):595-600

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background: Alstrom syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive inheritance of the ALMS1 gene. It manifests as multisystem dysfunction, displaying unique clinical signs and symptoms and various severity, which may lead to delayed prognosis or misdiagnosis in medical practice. Although almost 300 pathogenic variants have been reported, there are some variant sites that have not been recognized yet. Read More

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Efficacy of INtensive Treatment vs. Standard Treatment of COmpound DanshEn Dripping Pills in Refractory Angina Patients With Incomplete Revascularization (INCODER Study): Study Protocol for a Multicenter, Double-Blind, Randomized Controlled, Superiority Trial.

Front Cardiovasc Med 2022 26;9:860059. Epub 2022 Apr 26.

Department of Cardiology, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.

Introduction: Patients with incomplete revascularization (ICR) tend to develop refractory angina despite optimal medical therapy. The Compound Danshen Dripping Pills (CDDP) is a widely used antianginal drug in China and is shown to significantly alleviate myocardial ischemia. Previous studies showed dose-efficacy tendency when increasing doses of CDDP. Read More

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Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in Gene: A Case Report and Literature Review.

Front Med (Lausanne) 2022 7;9:862514. Epub 2022 Apr 7.

Department of Nephrology, Shengjing Hospital of China Medical University, Shenyang, China.

Background: Bartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the gene, which encodes the apical renal outer medullary potassium (ROMK) channel in the thick ascending limb (TAL) of Henle's loop. BS type II is typically considered as a disorder of infancy and seldom seen in adults.

Case Presentation: A 34-year-old woman was admitted with generalized body numbness and hand convulsions, without growth retardation. Read More

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Optogenetic activation of the diaphragm.

Sci Rep 2022 04 20;12(1):6503. Epub 2022 Apr 20.

Department of Physical Therapy, University of Florida, Gainesville, Florida, USA.

Impaired diaphragm activation is common in many neuromuscular diseases. We hypothesized that expressing photoreceptors in diaphragm myofibers would enable light stimulation to evoke functional diaphragm activity, similar to endogenous bursts. In a mouse model, adeno-associated virus (AAV) encoding channelrhodopsin-2 (AAV9-CAG-ChR2-mVenus, 6. Read More

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Study of Clinical, Hematological and Molecular Characteristics of Patients of Thalassemia and Hemoglobinopathies in Tertiary Care Hospital.

J Assoc Physicians India 2022 Apr;70(4):11-12

VMMC and Safdarjung Hospital, Aligarh.

To study clinical, hematological and molecular characteristics of patients of thalassemia and hemoglobinopathies and to correlate the molecular characteristics with clinical and hematological presentations. Material: This observational cross sectional study included 100 patients of age >12 years of all genders with chronic haemolytic anemia and history of multiple blood transfusion. Blood and radiological investigations were done. Read More

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Isolating two sources of variability of subcortical stimulation to quantify fluctuations of corticospinal tract excitability.

Clin Neurophysiol 2022 06 24;138:134-142. Epub 2022 Feb 24.

Department of Neurosurgery, Duke University, Durham, NC 27710, USA; Department of Electrical & Computer Engineering, Duke University, Durham, NC 27708, USA; Duke Institute of Brain Sciences, Duke University, Durham, NC 27710, USA; Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA; Department of Neurobiology, Duke University, Durham, NC 27710, USA.

Objective: Investigate the variability previously found with cortical stimulation and handheld transcranial magnetic stimulation (TMS) coils, criticized for its high potential of coil position fluctuations, bypassing the cortex using deep brain electrical stimulation (DBS) of the corticospinal tract with fixed electrodes where both latent variations of the coil position of TMS are eliminated and cortical excitation fluctuations should be absent.

Methods: Ten input-output curves were recorded from five anesthetized cats with implanted DBS electrodes targeting the corticospinal tract. Goodness of fit of regressions with a conventional single variability source as well as a dual variability source model was quantified using a Schwarz Bayesian Information approach to avoid overfitting. Read More

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Long latency responses in tongue muscle elicited by various stimulation sites in anesthetized humans - New insights into tongue-related brainstem reflexes.

Brain Stimul 2022 May-Jun;15(3):566-575. Epub 2022 Mar 24.

Department of Neurosurgery, Great Metropolitan Hospital of Niguarda, University of Milano, Italy.

Background: Long Latency Responses (LLR) in tongue muscles are a scarcely described phenomenon, the physiology of which is uncertain.

Objectives: The aim of this exploratory, observational study was to describe tongue-LLR elicited by direct trigeminal nerve (DTNS), dorsal column (DoColS), transcranial electric (TES) and peripheral median nerve (MNS) stimulation in a total of 93 patients undergoing neurosurgical procedures under general anesthesia.

Methods: Bilateral tongue responses were derived concurrently after each of the following stimulations: (1) DTNS applied with single monophasic or train-of-three pulses, ≤5 mA; (2) DoColS applied with a train-of-three pulses, ≤10 mA; (3) TES consisting of an anodal train-of-five stimulation, ≤250 mA; (4) MNS at wrist consisting of single or train-of-three monophasic pulses, ≤50 mA. Read More

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Delineating Novel and Known Pathogenic Variants in , and Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Genes (Basel) 2022 03 12;13(3). Epub 2022 Mar 12.

Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore 54600, Pakistan.

Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations and has been categorized with syndromic and non-syndromic features. The most common causative genes in non-syndromic OCA are and and is in the syndromic albinism. The objective of this study was to identify pathogenic variants in congenital OCA families from Pakistan. Read More

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Biomedical detection dogs for the identification of SARS-CoV-2 infections from axillary sweat and breath samples.

J Breath Res 2022 Apr 28;16(3). Epub 2022 Apr 28.

Ecole Nationale Vétérinaire d'Alfort (Alfort School of Veterinary Medicine), University Paris-East, Maisons-Alfort, France.

A Polymerase Chain Reaction (PCR) test of a nasal swab is still the 'gold standard' for detecting a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. However, PCR testing could be usefully complemented by non-invasive, fast, reliable, cheap methods for detecting infected individuals in busy areas (e.g. Read More

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Variable presentations of gene mutation in a family.

BMJ Case Rep 2022 Feb 28;15(2). Epub 2022 Feb 28.

Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India

We describe siblings born from non-consanguineous parents, with older sibling having asymptomatic hyperglycaemia while younger sibling presented with low birth weight and persistent hyperglycaemia from first month of life. Our case, the older sibling was heterozygous for paternally inherited pathogenic variant resulting in diabetes of maturity-onset in the young (MODY) manifested as mild fasting hyperglycaemia. gene sequencing revealed that the younger sibling was compound heterozygous for missense mutations (two) combined in a novel -permanent neonatal diabetes mellitus (PNDM) genotype. Read More

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February 2022

Whole Exome Sequencing Identified Novel Variations in Two Cases With Joubert Syndrome.

Front Genet 2022 4;13:817153. Epub 2022 Feb 4.

Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China.

Biallelic variations in the armadillo repeat-containing 9 () gene were recently defined to cause Joubert syndrome (JS) type thirty. In this study, two unrelated families with probands displaying typical indications of JS were enrolled and underwent a series of clinical and genetic investigations. Routine evaluation including magnetic resonance imaging (MRI) was carried out. Read More

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February 2022

TNNT1 myopathy with novel compound heterozygous mutations.

Neuromuscul Disord 2022 02 16;32(2):176-184. Epub 2021 Dec 16.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, 101 Daehakro Jongno-gu, 03080 Seoul, Republic of Korea; Department of Genomic Medicine, Seoul National University Hospital. Electronic address:

Nemaline myopathies are clinically and genetically heterogeneous disorders caused by several different genes. One of them is TNNT1, which was initially described in Amish families and has not been reported in Asian populations. Although most TNNT1 myopathies are caused by loss-of-function mutations, several recent studies have shown that missense mutations can also be pathogenic. Read More

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February 2022

Transmission electron microscopy study of suspected primary ciliary dyskinesia patients.

Sci Rep 2022 02 11;12(1):2375. Epub 2022 Feb 11.

Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition often presenting with chronic respiratory infections in early life. Transmission electron microscopy (TEM) is used to detect ciliary ultrastructural defects. In this study, we aimed to assess ciliary ultrastructural defects using quantitative methods on TEM to identify its diagnostic role in confirming PCD. Read More

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February 2022

Beyond inclusion: Enacting team equity in precision medicine research.

PLoS One 2022 7;17(2):e0263750. Epub 2022 Feb 7.

Division of Ethics, Department of Medical Humanities and Ethics, Columbia University, New York, NY, United States of America.

Purpose: To identify meanings of and challenges to enacting equitable diversification of genomics research, and specifically precision medicine research (PMR), teams.

Methods: We conducted in-depth interviews with 102 individuals involved in three U.S. Read More

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Labrune's Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review.

J Mov Disord 2022 May 24;15(2):162-166. Epub 2021 Dec 24.

Department of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.

Labrune's syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr's syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Read More

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Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Genet Med 2022 02 30;24(2):344-363. Epub 2021 Nov 30.

Department of Anatomopathology, CHU Brugmann, Brussels, Belgium.

Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.

Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy. Read More

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February 2022

Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies.

Am J Med Genet B Neuropsychiatr Genet 2022 01 10;189(1-2):37-47. Epub 2021 Dec 10.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Variants within the Neurotrophic Tyrosine Kinase Receptor Type 2 (NTRK2) gene have been discovered to play a role in developmental and epileptic encephalopathies, a group of debilitating conditions for which little is known about cause or treatment. Here, we determine the functional consequences of two variants: p.Tyr434Cys (Y434C) (located in the transmembrane domain) and p. Read More

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January 2022

Genetic and Epigenetic Factors Co-Influence the Severity of Phenotypic Presentations in Compound Mutations

Turk J Haematol 2022 02 10;39(1):70-71. Epub 2021 Dec 10.

Regenerative Medicine Sciences Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Penang, Malaysia

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February 2022

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.

Calcif Tissue Int 2022 04 11;110(4):441-450. Epub 2021 Nov 11.

Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Fevzi Çakmak Mahallesi, Muhsin Yazıcıoglu Caddesi, No:10, 34899, Pendik Istanbul, Turkey.

Biallelic loss of function mutations in the CLDN16 gene cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and chronic kidney disease. Here we report two cases of FHHNC with diverse clinical presentations and hypercalcemia in one as a novel finding. Pt#1 initially presented with urinary tract infection and failure to thrive at 5. Read More

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Compound odontoma associated with a calcifying odontogenic cyst. Case report and systematic review.

J Stomatol Oral Maxillofac Surg 2022 06 21;123(3):e97-e105. Epub 2021 Oct 21.

Resident of Oral pathologist, National Autonomous University of Mexico - UNAM, City of Mexico - Mexico.

The objectives of the present study were to comprehensively evaluate all the published cases on compound odontoma associated with calcifying odontogenic cyst (COaCOC) in the English literature and to describe the clinical, imaging and therapeutic variables for this condition. In August 2020, an electronic search of the PubMed / MEDLINE, Web of Science, ScienceDirect, Springer, and Scopus databases was carried out. The eligibility criteria included publications with enough information to confirm the diagnosis. Read More

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Evaluation of a physical activity promotion intervention for adults with whiplash associated disorders: a single-case experimental design study.

Disabil Rehabil 2021 Oct 15:1-14. Epub 2021 Oct 15.

School of Human Movement and Nutrition Sciences, The University of Queensland, Queensland, Australia.

Purpose: There is considerable variation in the physical and psychological presentations of people with whiplash-associated disorder (WAD). Optimal treatment continues to be a challenge. This research evaluated the efficacy of a community-located, theory-based intervention designed to promote physically active behaviour in people with persistent WAD, and thereby improve perceptions of pain interference and confidence completing activities in the presence of neck pain. Read More

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October 2021

Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene.

BMC Oral Health 2021 10 9;21(1):508. Epub 2021 Oct 9.

State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Periodontology, West China Hospital of Stomatology, Sichuan University, No.14, Section 3, Renmin South Road, Chengdu, 610041, China.

Background: Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder caused by mutations in the gene for anthrax toxin receptor-2 (ANTXR2). The clinical features of HFS include skin thickening with nodules, papules and plaques, gingival enlargement, joint stiffness and contractures, and systemic manifestations. Notably, in all patients with HFS reported in the literature, gingival enlargement has never occurred alone. Read More

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October 2021

Effectiveness of a brief positive skills intervention to improve psychological adjustment in patients with end-stage kidney disease newly initiated on haemodialysis: protocol for a randomised controlled trial (HED-Start).

BMJ Open 2021 09 21;11(9):e053588. Epub 2021 Sep 21.

National Kidney Foundation Singapore, Singapore.

Introduction: Initiation onto haemodialysis is a critical transition that entails multiple psychosocial and behavioural demands that can compound mental health burden. Interventions guided by self-management and cognitive-behavioural therapy to improve distress have been variably effective yet are resource-intensive or delivered reactively. Interventions with a focus on positive affect for patients with end-stage kidney disease are lacking. Read More

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September 2021

Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.

Eur J Med Genet 2021 Dec 17;64(12):104344. Epub 2021 Sep 17.

Department of Neurology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, 400014, China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing, 400014, China; Chongqing Key Laboratory of Pediatrics, Chongqing, 400014, China. Electronic address:

Introduction: Mitochondrial trifunctional protein (TFP) deficiency is an autosomal recessive disorder that causes a clinical spectrum of diseases ranging from severe infantile cardiomyopathy to mild chronic progressive neuromyopathy, however, parathyroid glands, hematologic system and kidney damage are not the common presentations of this disease.

Methods: We describe the clinical, biochemical and molecular features of the TFP deficiency patient at our institution. We also provide an extensive literature review of previous published cases with emphasis on the clinical/biochemical phenotype-genotype correlation of this disorder. Read More

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December 2021