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Comparison of pre-analytical characteristics for molecular and serological diagnostics of COVID-19.

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Comparison of pre-analytical characteristics for molecular and serological diagnostics of COVID-19.

GMS Hyg Infect Control. 2021;16:Doc03

Authors: Wendt R, Nickel O, Kalbitz S, Fertey J, Ulbert S, Wolf J, Lübbert C, Borte S

Abstract
Background: The diagnosis of SARS-CoV-2 infection relies on RT-PCR from nasopharyngeal swabs. The pre-analytical value of different methods of material harvesting for SARS-CoV-2 are unknown. Methods: We conducted a comprehensive investigation of the pre-analytical performance for different pharyngeal sampling procedures in hospitalized patients with confirmed SARS-CoV-2 infection. In addition to swabs taken simultaneously from different locations, saliva and pharyngeal lavages were also analyzed using RT-PCR. Results: In 10 COVID-19 patients, standard nasopharyngeal swabs detected 8 out of 10 positive patients, whereas swabs taken from the palatoglossal arch resulted in 9 correct-positive results. Brushing the posterior pharynx wall with swabs resulted in detection of 9 out of 10 positive patients with no difference using either dry swabs or liquid Amies medium. A strong correlation between Ct values of both swab materials was observed. Pharyngeal lavages yielded 6 out of 10 positive results in concordance with 85% of nasopharyngeal swabs in late-stage COVID-19 patients. Investigating 23 patients with early SARS-CoV-2 infection, pharyngeal lavages showed a concordance rate of 100% compared to nasopharyngeal swabs. Conclusions: The diagnostic performance of swabs taken from the palatoglossal arch in detecting SARS-CoV-2 infection is similar to that of specimens taken from the nasopharyngeal region. However, the former sampling method is associated with less discomfort and much easier to perform. Pharyngeal lavages may replace swabs for mass screening in early stages of SARS-CoV-2 infection. The predictive values are comparable, and the procedure is performed without exposing healthcare workers to transmission risks.

PMID: 33520604 [PubMed]

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Sigmoid Colon Tuberculosis Revealed by a Perforation and Peritonitis.

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Sigmoid Colon Tuberculosis Revealed by a Perforation and Peritonitis.

Cureus. 2020 Dec 25;12(12):e12272

Authors: Ait Ali H, Zeriouh B, Jabi R, Bouziane M

Abstract
Intestinal tuberculosis is a frequent disease in developing countries, causing considerable morbidity and mortality. However, tuberculosis of the colon is rarer, and it also appears to be more common in immunosuppressed patients. We report the case of a 71-year-old immunocompetent man who was admitted to the emergency department with an acute abdomen and features of perforation peritonitis. A sigmoid perforation on cancer was suspected on computed tomography (CT) scan and surgical exploration. A standard sigmoidectomy with end colostomy (Hartmann’s procedure) and peritoneal toileting was done. The pathological assessment of the surgical specimen revealed the sigmoid colon tuberculosis, complicated by perforation and peritonitis. Thus, the unexpected diagnosis of sigmoid colon tuberculosis was only made after the histopathological examination. Then, he received anti-tuberculosis treatment for six months. Therefore, a complete colonoscopy was performed at the end of the treatment, which returned to be normal. Thereafter, the restoration of intestinal continuity was performed. Colon tuberculosis is a rare disease and even rarer in people without immunodeficiency or on immunosuppressive therapy. If diverticulitis is the most common cause of sigmoid perforation, sigmoid perforation because of tuberculosis is extremely rare. However, an isolated primary sigmoid perforation of tubercular origin is not reported. We report this exceptional case of sigmoid colon tuberculosis complicated by perforation and generalized peritonitis to sensitize the medical team to its rare occurrence, which will be of paramount importance due to the increasing incidence of tuberculosis worldwide.

PMID: 33520488 [PubMed]

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Immune competence and respiratory symptoms in patients with ataxia telangiectasia: A prospective follow-up study.

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Immune competence and respiratory symptoms in patients with ataxia telangiectasia: A prospective follow-up study.

Clin Immunol. 2020 08;217:108491

Authors: Wölke S, Donath H, Bakhtiar S, Trischler J, Schubert R, Zielen S

Abstract
Ataxia telangiectasia is a multi-system disorder characterized by progressive cerebellar ataxia, malignancies, chronic pulmonary disease and immunodeficiency. The aim of our study was to determine the immune competence and prevalence of respiratory infections and/or chronic cough in classical A-T patients compared to age-matched healthy controls.
STUDY DESIGN: We recruited 20 classical A-T not treated by immunoglobulins and 21 healthy age-matched control patients. The caregivers were advised to keep a daily diary with the following items (daytime and nighttime cough, runny nose, fever), number of cold episodes, number of antibiotic treatments.
RESULTS: Patients with A-T showed significant differences compared to healthy controls in symptom score, daytime and nighttime cough, days with symptoms and missed days in kindergarten/school. Severe infections with hospitalization occurred rarely. Respiratory symptoms did not correlate with immunoglobulin levels in A-T patients.
CONCLUSIONS: Mild symptoms like chronic cough were present in A-T patients, possibly indicating ongoing silent crippling disease.

PMID: 32504779 [PubMed – indexed for MEDLINE]

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Evaluation of retinal microvascular perfusion in hereditary angioedema: a case-control study.

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Evaluation of retinal microvascular perfusion in hereditary angioedema: a case-control study.

Orphanet J Rare Dis. 2020 01 17;15(1):20

Authors: Triggianese P, Cesareo M, Guarino MD, Conigliaro P, Chimenti MS, Cedola F, Mazzeo C, Nucci C, Perricone R

Abstract
Evidence supports that hereditary angioedema (HAE) may be considered as a paroxysmal permeability disorder with defective but self-limiting endothelial barrier dysfunction. A potential subclinical abnormal vascular permeability at retinal capillaries could induce damage resulting in retinopathy. We aimed at exploring for the first time the presence of microangiopathy at retinal level from a highly selective cohort of patients with HAE due to C1 esterase inhibitor protein (C1INH) deficiency (type I). We conducted a pilot, prospective, case-control study including 20 type I HAE patients and 20 age-/sex-matched healthy controls (HC). All participants underwent standard ophthalmological examination including visual fields. Superficial and deep capillary plexi in the retina were analyzed by using new optical coherence tomography angiography (OCT-A). A total of 40 eyes from 20 HAE patients and 20 eyes from HC were evaluated. Perimetric indices of visual field were slightly worse in HAE than in controls. OCT-angiograms documented in HAE patients a lower retinal capillary density in both superficial and deep scans and a higher retinal thickness compared to healthy eyes. Our findings firstly documented subclinical abnormalities in retinal microvascular network in type I HAE patients that might be associated with early subtle functional changes. This preliminary evidence supports the hypothesis of a recurrent endothelial barrier failure at retinal level in HAE patients potentially resulting in chronic damage.

PMID: 31952522 [PubMed – indexed for MEDLINE]

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[Common variable immunodeficiency disorders: Part 2. Updated clinical manifestations and therapeutic management].

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[Common variable immunodeficiency disorders: Part 2. Updated clinical manifestations and therapeutic management].

Rev Med Interne. 2021 Jan 27;:

Authors: Viallard JF, Lebail B, Begueret H, Fieschi C

Abstract
Common variable immunodeficiency disorders (CVID) are the most common symptomatic primary antibody deficiency in adults with an estimated prevalence of 1/25,000. The most frequent clinical manifestations are upper respiratory tract infections (including pneumonia, bronchitis, and sinusitis) predominantly with Streptococcus pneumoniae or H. influenzae. However, CVID are complicated in 20 to 30 % of cases of non-infectious manifestations which have been well characterized in recent years. Several complications can be observed including autoimmune, lymphoproliferative, granulomatous or cancerous manifestations involving one or more organs. These complications, mostly antibody-mediated cytopenias, are correlated with a decrease in the number of circulating switched memory B cells. Replacement therapy with polyvalent gammaglobulins has greatly improved the prognosis of these patients but it remains poor in the presence of digestive complications (especially in the case of chronic enteropathy and/or porto-sinusoidal vascular disease), pulmonary complications (bronchiectasis and/or granulomatous lymphocytic interstitial lung disease) and when progression to lymphoma. Much progress is still to be made, in particular on the therapeutic management of non-infectious complications which should benefit in the future from targeted treatments based on knowledge of genetics and immunology.

PMID: 33516581 [PubMed – as supplied by publisher]

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[Clinical and anatomical features of SARS-COV-2 with acute hemorrhagic necrotizing encephalopathy].

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[Clinical and anatomical features of SARS-COV-2 with acute hemorrhagic necrotizing encephalopathy].

Arkh Patol. 2021;83(1):35-43

Authors: Ermilov VV, Barkanov VB, Barkanova ON, Dorofeev NA, Filatov VE

Abstract
Autopsy material and medical history were studied and analyzed in a 20-year-old male patient who had died from COVID-19 infection with the development of acute SARS-CoV-2-associated hemorrhagic necrotizing encephalopathy in adults with obvious endothelial dysfunction confirmed by virological examination of the autopsy material. In this case, the brain structures displayed the main found histopathologic signs: widespread vasculitis (endotheliitis) with varying degrees of segmental and total endothelial destruction; thrombosis mainly of the vessels of the microcirculatory bed; parenchymal hemorrhagic necrosis and inflammation (encephalitis); severe necrobiotic damage to neurons. Cerebrovascular immune damages and hypercoagulable states, which were observed in some acute viral neuroinfections, are the basis for the neurological complications of COVID-19. In this case of bicausal diagnosis (the presence of a comorbidity), the primary disease contributed to the acute progression of the background disease (secondary infiltrative tuberculosis with the development of specific pleuritis and pneumothorax with the addition of acute bilateral focal confluent bronchopneumonia with a history of undifferentiated immunodeficiency syndrome. Emphasis is laid on the possibility and importance of involving the brain structures in the process in COVID-19 for the timely diagnosis of emerging neurological disorders. A brief literature review is given.

PMID: 33512126 [PubMed – as supplied by publisher]

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Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.

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Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.

J Med Internet Res. 2020 10 09;22(10):e19040

Authors: Mendoza-Alvarez A, Muñoz-Barrera A, Rubio-Rodríguez LA, Marcelino-Rodriguez I, Corrales A, Iñigo-Campos A, Callero A, Perez-Rodriguez E, Garcia-Robaina JC, González-Montelongo R, Lorenzo-Salazar JM, Flores C

Abstract
BACKGROUND: Hereditary angioedema is a rare genetic condition caused by C1 esterase inhibitor deficiency, dysfunction, or kinin cascade dysregulation, leading to an increased bradykinin plasma concentration. Hereditary angioedema is a poorly recognized clinical entity and is very often misdiagnosed as a histaminergic angioedema. Despite its genetic nature, first-line genetic screening is not integrated in routine diagnosis. Consequently, a delay in the diagnosis, and inaccurate or incomplete diagnosis and treatment of hereditary angioedema are common.
OBJECTIVE: In agreement with recent recommendations from the International Consensus on the Use of Genetics in the Management of Hereditary Angioedema, to facilitate the clinical diagnosis and adapt it to the paradigm of precision medicine and next-generation sequencing-based genetic tests, we aimed to develop a genetic annotation tool, termed Hereditary Angioedema Database Annotation (HADA).
METHODS: HADA is built on top of a database of known variants affecting function, including precomputed pathogenic assessment of each variant and a ranked classification according to the current guidelines from the American College of Medical Genetics and Genomics.
RESULTS: HADA is provided as a freely accessible, user-friendly web-based interface with versatility for the entry of genetic information. The underlying database can also be incorporated into automated command-line stand-alone annotation tools.
CONCLUSIONS: HADA can achieve the rapid detection of variants affecting function for different hereditary angioedema types, and further integrates useful information to reduce the diagnosis odyssey and improve its delay.

PMID: 33034563 [PubMed – indexed for MEDLINE]

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DNMT3B deficiency presenting as severe combined immune deficiency: A case report.

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DNMT3B deficiency presenting as severe combined immune deficiency: A case report.

Clin Immunol. 2020 06;215:108453

Authors: Mehawej C, Khalife H, Hanna-Wakim R, Dbaibo G, Farra C

Abstract
Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome is a group of rare autosomal recessive disorders. The immune disease in the ICF syndrome consists mainly of humoral immunodeficiency. T-cell dysfunction has previously been suspected to be part of the syndrome’s spectrum. However, patients with ICF display, at a young age, a normal number of T cells that tend to decline throughout disease progression due to apoptosis. Biallelic mutations in the DNMT3B gene account for around 50% of ICF cases (ICF type 1). The remaining half may be linked to ZBTB24, CDCA7 or HELLS. Here we report a novel homozygous DNMT3B mutation (NM_ 006892; p.R826H) in a Lebanese family presenting in early infancy with severe combined immune deficiency (SCID). This work expands the clinical spectrum of the ICF syndrome and confirms the importance of tailoring therapeutic approaches for each patient with ICF syndrome, according to the clinical manifestations of his disease.

PMID: 32360517 [PubMed – indexed for MEDLINE]

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