172 results match your criteria manifest milder


A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and Brachydactyly Type C+ in a 6 generations family: Clinical report and mini review.

Eur J Med Genet 2021 Apr 16:104226. Epub 2021 Apr 16.

Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan. Electronic address:

Different mutations in the Growth/Differentiation Factor 5 gene (GDF5) have been associated with varying types of skeletal dysplasia, including Grebe type chondrodysplasia (GTC), Hunter-Thompson syndrome, Du Pan Syndrome and Brachydactyly type C (BDC). Heterozygous pathogenic mutations exert milder effects, whereas homozygous mutations are known to manifest more severe phenotypes. In this study, we report a GDF5 frameshift mutation (c. Read More

View Article and Full-Text PDF

Pericarditis as the Main Clinical Manifestation of COVID-19 in Adolescents.

Pediatr Infect Dis J 2021 05;40(5):e197-e199

From the Second Department of Paediatrics, National and Kapodistrian University of Athens, School of Medicine, P. and A. Kyriakou Children's Hospital, Athens, Greece.

Children and adolescents with severe acute respiratory syndrome coronavirus 2 infection usually have a milder illness, lower mortality rates and may manifest different clinical entities compared with adults. Acute effusive pericarditis is a rare clinical manifestation in patients with COVID-19, especially among those without concurrent pulmonary disease or myocardial injury. We present 2 cases of acute pericarditis, in the absence of initial respiratory or other symptoms, in adolescents with COVID-19. Read More

View Article and Full-Text PDF

Androgenization in Klinefelter syndrome: Clinical spectrum from infancy through young adulthood.

J Pediatr Urol 2021 Feb 24. Epub 2021 Feb 24.

Department of Urology, University of Miami Miller School of Medicine, Miami, FL, USA.

Klinefelter syndrome (KS) is an uncommon chromosomal disorder in males that has a variable clinical appearance. Classic KS involves an extra X chromosome, (47, XXY), although other variations may exist, including a milder mosaic form as well as multiple extra sex chromosomes with more dramatic phenotypes. KS is underdiagnosed, especially pre-pubertally, owing to a paucity of concrete clinical signs; however, diagnostic rates increase during and after puberty, as the consequences of hypergonadotropic hypogonadism begin to manifest. Read More

View Article and Full-Text PDF
February 2021

An evaluation of patients with a previous endemic coronavirus infection during the COVID-19 pandemic.

J Med Virol 2021 Mar 16. Epub 2021 Mar 16.

Department of Infectious Diseases and Clinical Microbiology, Inonu University Medical Faculty, Malatya, Turkey.

Few studies exist on the clinical manifestation of coronavirus disease 2019 (COVID-19) in patients who previously had a common cold due to an endemic coronavirus (eCoV). In a retrospective scan of the data obtained in our microbiology laboratory, 64 patients who were diagnosed with an eCoV infection between 2016 and 2020 were identified. National COVID-19 surveillance data showed that four (6. Read More

View Article and Full-Text PDF

[Molybdenum cofactor deficiency type B manifested as Leigh-like syndrome: a case report and literature review].

Zhonghua Er Ke Za Zhi 2021 Feb;59(2):119-124

Department of Neurology, Hebei Children's Hospital, Shijiazhuang 050030, China.

To explore the phenotypes and genotypes of molybdenum cofactor deficiency type B (MoCD-B) manifested as Leigh-like syndrome. The clinical data, laboratory tests, neuroimaging and gene results of one patient diagnosed as MoCD-B at Beijing Children's Hospital and Hebei Children's Hospital in December 2018 were collected. Related literature was searched and reviewed at Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed (up to September 2020) by using terms "MOCS2" "molybdenum cofactor deficiency" "Leigh-like syndrome,MOCS2" "molybdenum cofactor deficiency, Leigh-like syndrome". Read More

View Article and Full-Text PDF
February 2021

Intrauterine IPEX.

Front Pediatr 2020 20;8:599283. Epub 2020 Nov 20.

Instituto Gulbenkian de Ciência, Oeiras, Portugal.

IPEX is one of the few Inborn Errors of Immunity that may manifest in the fetal period, and its intrauterine forms certainly represent the earliest human autoimmune diseases. Here, we review the clinical, histopathologic, and genetic findings from 21 individuals in 11 unrelated families, with nine different mutations, described as cases of intrauterine IPEX. Recurrent male fetal death (multigenerational in five families) due to hydrops in the midsemester of pregnancy was the commonest presentation (13/21). Read More

View Article and Full-Text PDF
November 2020

Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy.

Life Sci Alliance 2021 01 24;4(1). Epub 2020 Nov 24.

Department of Dermatology, Indiana University School of Medicine, Indianapolis, IN, USA

Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of infant mortality. SMA results from insufficient survival motor neuron (SMN) protein due to alternative splicing. Antisense oligonucleotides, gene therapy and splicing modifiers recently received FDA approval. Read More

View Article and Full-Text PDF
January 2021

Psycho-social impact of social distancing and isolation due to the COVID-19 containment measures on patients with physical disabilities.

Eur J Phys Rehabil Med 2021 Feb 9;57(1):158-165. Epub 2020 Nov 9.

Unit of Neurorehabilitation, Department of Medical Specialties, University Hospital of Pisa, Pisa, Italy.

Background: While the COVID-19 pandemic was spreading worldwide, the Italian government stated lockdown, with a drastic reorganization of healthcare systems. The psychological and social effects of the pandemic and the restrictions of freedom could have had a detrimental impact on people with physical disabilities, for whom well-being depends strongly on their social environment.

Aim: Our main aim was to describe the overall impact of the pandemic on mental health, social condition and illness perception among patients with disabilities, to provide early interventions for this particularly vulnerable population. Read More

View Article and Full-Text PDF
February 2021

Nanobiosensors as new diagnostic tools for SARS, MERS and COVID-19: from past to perspectives.

Mikrochim Acta 2020 11 5;187(12):639. Epub 2020 Nov 5.

Department of Chemistry and Drug Technologies, Sapienza University of Rome, P.le Aldo Moro 5, 00185, Rome, Italy.

The severe acute respiratory syndrome (SARS), Middle East respiratory syndrome (MERS) and novel coronavirus 19 (COVID-19) epidemics represent the biggest global health threats in the last two decades. These infections manifest as bronchitis, pneumonia or severe, sometimes fatal, respiratory illness. The novel coronavirus seems to be associated with milder infections but it has spread globally more rapidly becoming a pandemic. Read More

View Article and Full-Text PDF
November 2020

Comparative tropism, replication kinetics, and cell damage profiling of SARS-CoV-2 and SARS-CoV with implications for clinical manifestations, transmissibility, and laboratory studies of COVID-19: an observational study.

Lancet Microbe 2020 May 21;1(1):e14-e23. Epub 2020 Apr 21.

Department of Clinical Microbiology and Infection Control, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was reported from China in January, 2020. SARS-CoV-2 is efficiently transmitted from person to person and, in 2 months, has caused more than 82 000 laboratory-confirmed cases of coronavirus disease 2019 (COVID-19) and 2800 deaths in 46 countries. The total number of cases and deaths has surpassed that of the 2003 severe acute respiratory syndrome coronavirus (SARS-CoV). Read More

View Article and Full-Text PDF

Decline of cognitive and behavioral functions in amyotrophic lateral sclerosis: a longitudinal study.

Amyotroph Lateral Scler Frontotemporal Degener 2020 08 2;21(5-6):373-379. Epub 2020 Jun 2.

ALS Center, Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità, Novara, Italy.

: A cognitive impairment, ranging from frontotemporal dementia (FTD) to milder forms of dysexecutive or behavioral dysfunction, is detected in 30-50% of patients affected by amyotrophic lateral sclerosis (ALS) at diagnosis. Such condition considerably influences the prognosis, and possibly impacts on the decision-making process with regards to end-of-life choices. The aim of our study is to examine the changes of cognitive and behavioral impairment in a large population of ALS from the time of diagnosis to a 6-month follow-up (IQR 5. Read More

View Article and Full-Text PDF

Update on Congenital Myopathies in Adulthood.

Int J Mol Sci 2020 May 24;21(10). Epub 2020 May 24.

st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 157 80 Athens, Greece.

Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Read More

View Article and Full-Text PDF

Treatment of Obstructive Sleep Apnea in Children: Handling the Unknown with Precision.

J Clin Med 2020 Mar 24;9(3). Epub 2020 Mar 24.

Department of Child Health and the Child Health Research Institute, University of Missouri School of Medicine, Columbia, MO 65201, USA.

Treatment approaches to pediatric obstructive sleep apnea (OSA) have remarkably evolved over the last two decades. From an a priori assumption that surgical removal of enlarged upper airway lymphadenoid tissues (T&A) was curative in the vast majority of patients as the recommended first-line treatment for pediatric OSA, residual respiratory abnormalities are frequent. Children likely to manifest persistent OSA after T&A include those with severe OSA, obese or older children, those with concurrent asthma or allergic rhinitis, children with predisposing oropharyngeal or maxillomandibular factors, and patients with underlying medical conditions. Read More

View Article and Full-Text PDF

Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis.

Front Immunol 2020 3;11:320. Epub 2020 Mar 3.

Department of Paediatrics and Paediatric Infectious Diseases, Institute of Child's Health, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.

Primary immunodeficiency diseases (PID) area heterogeneous group of disorders caused by genetic defects of the immune system, which manifest clinically as recurrent infections, autoimmune diseases or malignancies. Early detection of PID remains a challenge, particularly in older children with milder and less specific symptoms. This study aimed to assess TREC and KREC diagnostic ability in PID. Read More

View Article and Full-Text PDF

To Treat or Not to Treat Subclinical Hypothyroidism, What Is the Evidence?

Medicina (Kaunas) 2020 Jan 19;56(1). Epub 2020 Jan 19.

Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-171 76 Stockholm, Sweden.

Objective: levothyroxine prescriptions have increased remarkably during the last decade, and it is most likely to be prescribed in subclinical hypothyroidism. The aim of this review was to present data on when levothyroxine treatment should be initiated, and the effects of treatment in subclinical hypothyroidism on symptoms such as weight, quality of life, vitality, cognition, and cardiovascular disease. We also discuss evidence for different thyroid-hormone medications. Read More

View Article and Full-Text PDF
January 2020

Respiratory Involvement in Patients with Neuromuscular Diseases: A Narrative Review.

Pulm Med 2019 26;2019:2734054. Epub 2019 Dec 26.

MSc Program in Sleep Medicine, Medical School, Democritus University of Thrace, Alexandroupolis, Greece.

Respiratory muscle weakness is a major cause of morbidity and mortality in patients with neuromuscular diseases (NMDs). Respiratory involvement in NMDs can manifest broadly, ranging from milder insufficiency that may affect only sleep initially to severe insufficiency that can be life threatening. Patients with neuromuscular diseases exhibit very often sleep-disordered breathing, which is frequently overlooked until symptoms become more severe leading to irreversible respiratory failure necessitating noninvasive ventilation (NIV) or even tracheostomy. Read More

View Article and Full-Text PDF

[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome].

Z Geburtshilfe Neonatol 2020 Jun 18;224(3):153-159. Epub 2019 Dec 18.

Neonatologie, Zentrum für Kinder- und Jugendmedizin, Universitätsmedizin der Johannes Gutenberg-Universität Mainz.

Within 4 years (2014-2017), we genetically diagnosed 2 newborns with Kagami-Ogata syndrome (OMIM #608149). As fetuses they exhibited prenatal polyhydramnios and in 1 case hepatomegaly. After birth, the newborns suffered from respiratory distress. Read More

View Article and Full-Text PDF

Biochemical thresholds for pathological presentation of ATP synthase deficiencies.

Biochem Biophys Res Commun 2020 01 12;521(4):1036-1041. Epub 2019 Nov 12.

Department of Bioenergetics, Institute of Physiology, The Czech Academy of Sciences, 14220, Prague, Czech Republic. Electronic address:

Mitochondrial ATP synthase is responsible for production of the majority of cellular ATP. Disorders of ATP synthase in humans can be caused by numerous mutations in both structural subunits and specific assembly factors. They are associated with variable pathogenicity and clinical phenotypes ranging from mild to the most severe mitochondrial diseases. Read More

View Article and Full-Text PDF
January 2020

[Distal Renal Tubular Acidosis: Clinical Variability in the Same Family].

Acta Med Port 2019 Aug 1;32(7-8):542-545. Epub 2019 Aug 1.

Unidade de Nefrologia Pediátrica. Hospital Pediátrico de Coimbra. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.

Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. Read More

View Article and Full-Text PDF

Fingolimod Improves the Outcome of Experimental Graves' Disease and Associated Orbitopathy by Modulating the Autoimmune Response to the Thyroid-Stimulating Hormone Receptor.

Thyroid 2019 09;29(9):1286-1301

Molecular Ophthalmology, Department of Ophthalmology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.

Graves' disease (GD) and Graves' orbitopathy are associated with stimulating thyrotropin receptor (TSHR) autoantibodies and autoreactive T cells. Recent studies suggested that sphingosine-1-phosphate (S1P) signaling is involved in the pathogenesis of orbitopathy. In this study, we explored the immune modulatory potential of S1P receptor antagonist fingolimod in a murine model for GD. Read More

View Article and Full-Text PDF
September 2019

Meibomian gland inversion: under-recognized entity.

Acta Ophthalmol 2019 Dec 11;97(8):e1116-e1122. Epub 2019 Jun 11.

Corneoplastic Unit, Queen Victoria Hospital NHS Trust, East Grinstead, UK.

Objective: To describe a clinical entity of upper eyelid margin and meibomian gland inversion (MGI) sequential to meibomian gland dysfunction (MGD), in the absence of eyelash ptosis, trichiasis or manifest marginal entropion. We highlight its clinical features, surgical management and outcomes.

Methods: We performed a retrospective analysis of symptomatic MGI cases refractory to conservative management who underwent surgery in our centre over a 4-year period. Read More

View Article and Full-Text PDF
December 2019

[Research progress on composite animal models of inflammatory bowel disease based on gene knockout].

Zhejiang Da Xue Xue Bao Yi Xue Ban 2018 Dec;47(6):665-670

Zhejiang University School of Medicine, Hangzhou 310058, China.

Establishing a suitable animal model is important for studying the mechanism of inflammatory bowel disease (IBD) and exploring new therapeutic approaches. Although a large number of IBD single gene knockout animal models have been established, single knockout of certain genes associated with human IBD susceptibility does not manifest symptoms of IBD or manifest extremely milder symptoms, while composite animal models based on other modeling factors can better simulate the clinical features of IBD. This article mainly introduces three novel composite animal models and elaborates the possible pathogenesis of each composite model:animal models established by gene double knockout have more obvious and earlier symptoms than single-knockout models; single gene knockout model with Helicobacter infection can help to study the role of microbial infections in the pathogenesis of IBD; on the basis of gene knockout, specific deletion of certain immune cells can be used to study the role of the immune cells in the development of IBD. Read More

View Article and Full-Text PDF
December 2018

Genotype-structure-phenotype relationships diverge in paralogs , , and .

Neurol Genet 2019 Feb 4;5(1):e303. Epub 2019 Feb 4.

Department of Neurosurgery (K.J. Sweadner, E.A., J.T.P.), Center for Human Genetics Research (K.J. Swoboda), and Department of Neurology, (K.J. Swoboda, L.J.O.) Massachusetts General Hospital, Boston; and the Department of Neurology (A.B.), Wake Forest School of Medicine, Winston-Salem, NC.

Objective: We tested the assumption that closely related genes should have similar pathogenic variants by analyzing >200 pathogenic variants in a gene family with high neurologic impact and high sequence identity, the Na,K-ATPases , , and .

Methods: Data sets of disease-associated variants were compared. Their equivalent positions in protein crystal structures were used for insights into pathogenicity and correlated with the phenotype and conservation of homology. Read More

View Article and Full-Text PDF
February 2019

Comparison between manual trephination versus femtosecond laser-assisted deep anterior lamellar keratoplasty for keratoconus.

Br J Ophthalmol 2019 12 23;103(12):1716-1723. Epub 2019 Feb 23.

Poostchi Ophthalmology Research Center, Department of Ophthalmology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

Background/aims: To compare the outcomes of femtosecond laser-assisted deep anterior lamellar keratoplasty (F-DALK) versus manual trephination DALK (M-DALK) in patients with keratoconus.

Methods: In this retrospective, comparative, clinical study, medical charts of 860 patients with keratoconus who underwent F-DALK (n=391) or M-DALK (n=469) with the Melles's technique, and had at least a 12-month follow-up record were reviewed. The main outcome measures comprised best spectacle-corrected visual acuity (BSCVA), manifest refraction and keratometric indices. Read More

View Article and Full-Text PDF
December 2019

Computed Tomography Appearance of Uncorrected Congenital Heart Disease in Adults.

J Thorac Imaging 2019 May;34(3):W13-W22

Department of Radiology, University Hospital, Rutgers New Jersey Medical School, Newark, NJ.

The incidence of congenital heart disease (CHD) is about 4 to 10 per 1000 live births. While severe forms of CHD are usually diagnosed in infancy or childhood, milder and more survivable CHD may first manifest in the adult or may be discovered incidentally on imaging studies performed for other reasons. It is important to identify CHD in adults to implement appropriate treatment and prevent complications such as progression of pulmonary hypertension and development of heart failure. Read More

View Article and Full-Text PDF