MYH9 Mutation, the Hidden Face of Diverse Disease Spectrum - from Renal Perspective. Renal Perspective of MYH9 Mutation

AbstractExpanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China. To determine the disease spectrum and genetic characteristics of IEMs in Xi'an city of Shaanxi province in northwest China, 146152 newborns were screening by MSMS from January 2014 to December 2019 and 61 patients were referred to genetic analysis by next generation sequencing (NGS) and validated by Sanger sequencing. Seventy-five newborns and two mothers were diagnosed with IEMs, with an overall incidence of 1:1898 (1:1949 without mothers). There were 35 newborns with amino acidemias (45.45%, 1:4176), 28 newborns with organic acidurias (36.36%, 1:5220), and 12 newborns and two mothers with FAO disorders (18.18%; 1:10439 or 1:12179 without mothers). Phenylketonuria and methylmalonic acidemia were the two most common disorders, accounting for 65.33% (49/75) of all confirmed newborn. Some hotspot mutations were observed for several IEMs, including PAH gene c.728G>A for phenylketonuria; MMACHC gene c.609G>A and c.567dupT, MMUT gene c.323G>A for methylmalonic acidemia and SLC25A13 gene c.852_855del for citrin deficiency. Our study provides effective clinical guidance for the popularization and application of expanded newborn screening, genetic screening, and genetic counseling of IEMs in this region.

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Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Diagnostics ◽

10.3390/diagnostics11071218 ◽

2021 ◽

Vol 11 (7) ◽

pp. 1218

Author(s):

Raffaella Brunetti-Pierri ◽

Marianthi Karali ◽

Francesco Testa ◽

Gerarda Cappuccio ◽

Maria Elena Onore ◽

...

Keyword(s):

Wide Spectrum ◽

Clinical Manifestations ◽

Brain Magnetic Resonance Imaging ◽

Joubert Syndrome ◽

Male Adult ◽

Full Field ◽

Pathogenic Variants ◽

Disease Spectrum ◽

Male Individual ◽

The Central Nervous System

Pathogenic variants in the MKS1 gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male individual presenting with isolated Retinitis Pigmentosa (RP), as assessed by full ophthalmological evaluation including Best-Corrected Visual Acuity measurements, fundus examination, Goldmann Visual Field test, and full-field Electroretinography. A clinical exome identified biallelic nonsense variants in MKS1 that prompted post-genotyping investigations for systemic abnormalities of ciliopathy. Brain magnetic resonance imaging revealed malformations of the posterior cranial fossa with the ‘molar tooth sign’ and cerebellar folia dysplasia, which are both distinctive features of JBTS. No other organ or skeletal abnormalities were detected. This case illustrates the power of clinical exome for the identification of the mildest forms of a disease spectrum, such as a mild JBTS with RP in the presented case of an individual carrying biallelic truncating variants in MKS1.

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Infection and disease spectrum in individuals with household exposure to SARS‐CoV‐2: A family cluster cohort study

Journal of Medical Virology ◽

10.1002/jmv.26847 ◽

2021 ◽

Author(s):

Wen Xie ◽

Zhihai Chen ◽

Qi Wang ◽

Meihua Song ◽

Ying Cao ◽

...

Keyword(s):

Cohort Study ◽

Family Cluster ◽

Disease Spectrum

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Carnobacterium inhibens isolated in blood culture of an immunocompromised, metastatic cancer patient: a case report and literature review

BMC Infectious Diseases ◽

10.1186/s12879-021-06095-7 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Carson Ka-Lok Lo ◽

Prameet M. Sheth

Keyword(s):

Metastatic Cancer ◽

Immunocompromised Patients ◽

Case Presentation ◽

Gram Positive Bacteria ◽

Disease Spectrum ◽

The Us ◽

History Of ◽

Amoxicillin Clavulanic Acid ◽

Live Bacteria ◽

Health Canada

Abstract Background Carnobacterium species are lactic acid-producing Gram-positive bacteria that have been approved by the US Food and Drug Administration and Health Canada for use as a food bio-preservative. The use of live bacteria as a food additive and its potential risk of infections in immunocompromised patients are not well understood. Case presentation An 81-year-old male with a history of metastatic prostate cancer on androgen deprivation therapy and chronic steroids presented to our hospital with a 2-week history of productive cough, dyspnea, altered mentation, and fever. Extensive computed tomography imaging revealed multifocal pneumonia without other foci of infection. He was diagnosed with pneumonia and empirically treated with ceftriaxone and vancomycin. Blood cultures from admission later returned positive for Carnobacterium inhibens. He achieved clinical recovery with step-down to oral amoxicillin/clavulanic acid for a total 7-day course of antibiotics. Conclusions This is the fourth reported case of bacteremia with Carnobacterium spp. isolated from humans. This case highlights the need to better understand the pathogenicity and disease spectrum of bacteria used in the food industry for bio-preservation, especially in immunocompromised patients.

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WSES-AAST guidelines: management of inflammatory bowel disease in the emergency setting

World Journal of Emergency Surgery ◽

10.1186/s13017-021-00362-3 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Belinda De Simone ◽

Justin Davies ◽

Elie Chouillard ◽

Salomone Di Saverio ◽

Frank Hoentjen ◽

...

Keyword(s):

Inflammatory Bowel Disease ◽

Bowel Disease ◽

Emergency Surgery ◽

Steering Committee ◽

Consensus Conference ◽

World Society ◽

Emergency Setting ◽

Disease Spectrum ◽

Precise Analysis ◽

Inflammatory Bowel

Abstract Background Despite the current therapeutic options for the treatment of inflammatory bowel disease, surgery is still frequently required in the emergency setting, although the number of cases performed seems to have decreased in recent years. The World Society of Emergency Surgery decided to debate in a consensus conference of experts, the main pertinent issues around the management of inflammatory bowel disease in the emergent situation, with the need to provide focused guidelines for acute care and emergency surgeons. Method A group of experienced surgeons and gastroenterologists were nominated to develop the topics assigned and answer the questions addressed by the Steering Committee of the project. Each expert followed a precise analysis and grading of the studies selected for review. Statements and recommendations were discussed and voted at the Consensus Conference of the 6th World Society of Emergency Surgery held in Nijmegen (The Netherlands) in June 2019. Conclusions Complicated inflammatory bowel disease requires a multidisciplinary approach because of the complexity of this patient group and disease spectrum in the emergency setting, with the aim of obtaining safe surgery with good functional outcomes and a decreasing stoma rate where appropriate.

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Pathophysiology of acute respiratory syndrome coronavirus 2 infection: a systematic literature review to inform EULAR points to consider

RMD Open ◽

10.1136/rmdopen-2020-001549 ◽

2021 ◽

Vol 7 (1) ◽

pp. e001549 ◽

Cited By ~ 1

Author(s):

Aurélie Najm ◽

Alessia Alunno ◽

Xavier Mariette ◽

Benjamin Terrier ◽

Gabriele De Marco ◽

...

Keyword(s):

Literature Review ◽

Systematic Literature Review ◽

Immune Cell ◽

Severe Disease ◽

Cell Phenotype ◽

Loss Of Function ◽

Humoral And Cellular Immunity ◽

Host Immune Responses ◽

Disease Spectrum ◽

And Function

BackgroundThe SARS-CoV-2 pandemic is a global health problem. Beside the specific pathogenic effect of SARS-CoV-2, incompletely understood deleterious and aberrant host immune responses play critical roles in severe disease. Our objective was to summarise the available information on the pathophysiology of COVID-19.MethodsTwo reviewers independently identified eligible studies according to the following PICO framework: P (population): patients with SARS-CoV-2 infection; I (intervention): any intervention/no intervention; C (comparator): any comparator; O (outcome) any clinical or serological outcome including but not limited to immune cell phenotype and function and serum cytokine concentration.ResultsOf the 55 496 records yielded, 84 articles were eligible for inclusion according to question-specific research criteria. Proinflammatory cytokine expression, including interleukin-6 (IL-6), was increased, especially in severe COVID-19, although not as high as other states with severe systemic inflammation. The myeloid and lymphoid compartments were differentially affected by SARS-CoV-2 infection depending on disease phenotype. Failure to maintain high interferon (IFN) levels was characteristic of severe forms of COVID-19 and could be related to loss-of-function mutations in the IFN pathway and/or the presence of anti-IFN antibodies. Antibody response to SARS-CoV-2 infection showed a high variability across individuals and disease spectrum. Multiparametric algorithms showed variable diagnostic performances in predicting survival, hospitalisation, disease progression or severity, and mortality.ConclusionsSARS-CoV-2 infection affects both humoral and cellular immunity depending on both disease severity and individual parameters. This systematic literature review informed the EULAR ‘points to consider’ on COVID-19 pathophysiology and immunomodulatory therapies.

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