Clinical and neurological findings of a patient with a complex chromosome 5 alteration

Context: Inversion-duplication-deletion (invdupdel) involving the short arm of chromosome 5 is considered a complex and extremely rare alteration. Case report: A female patient was born prematurely at 32 weeks and was delivered by cesarean section, weighing 2,086 grams, with an Apgar score in the fifth minute of 7. After birth, she needed invasive mechanical ventilation. A nasofibrolaryngoscopy was performed, which revealed the rear projection of the tongue base. The speech-language evaluation showed a swallowing disorder. The patient needed to be tracheostomized and evolved with episodes of cardiorespiratory arrest. A zone 2 of immaturity was identified in both eyes. Then, gastroesophageal reflux was also diagnosed. Cerebral ultrasound showed moderate lateral ventricles dilation. High resolution GTG-banding karyotype identified an inverted and partial duplication of the chromosome’s 5 short arm, with a probable deletion of its distal segment: 46,XX,invdup(5) (p13.3->p15.33:: p15.33->qter) [23]. The parents’ karyotype was normal. At 2 months, the patient had dolichocephaly; bitemporal narrowing; hypertelorism; and down slanting palpebral fissures with blepharophimosis; low-set and posteriorly rotated ears; leftover skin at neck and bilateral plantar creases between the first, second and third toes. Conclusions: Invdupdel of the short arm of chromosome 5 is a very rare chromosomal alteration. Neurological findings seem to be part of its clinical manifestations, especially dilated lateral ventricles. More reports will be essential for understanding its clinical spectrum.

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COVID-19 in Hospitalized Adults With HIV

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa327 ◽

2020 ◽

Vol 7 (8) ◽

Cited By ~ 1

Author(s):

Kate Stoeckle ◽

Carrie D Johnston ◽

Deanna P Jannat-Khah ◽

Samuel C Williams ◽

Tanya M Ellman ◽

...

Keyword(s):

Clinical Characteristics ◽

Invasive Mechanical Ventilation ◽

Clinical Manifestations ◽

Supplemental Oxygen ◽

Control Group ◽

Electronic Health Record Data ◽

Duration Of Symptoms ◽

Radiographic Findings ◽

Presenting Symptoms ◽

And Control

Abstract Background The spread of SARS-CoV-2 and the COVID-19 pandemic have caused significant morbidity and mortality worldwide. The clinical characteristics and outcomes of hospitalized patients with SARS-CoV-2 and HIV co-infection remain uncertain. Methods We conducted a matched retrospective cohort study of adults hospitalized with a COVID-19 illness in New York City between March 3, 2020, and May 15, 2020. We matched 30 people with HIV (PWH) with 90 control group patients without HIV based on age, sex, and race/ethnicity. Using electronic health record data, we compared demographic characteristics, clinical characteristics, and clinical outcomes between PWH and control patients. Results In our study, the median age (interquartile range) was 60.5 (56.6–70.0) years, 20% were female, 30% were black, 27% were white, and 24% were of Hispanic/Latino/ethnicity. There were no significant differences between PWH and control patients in presenting symptoms, duration of symptoms before hospitalization, laboratory markers, or radiographic findings on chest x-ray. More patients without HIV required a higher level of supplemental oxygen on presentation than PWH. There were no differences in the need for invasive mechanical ventilation during hospitalization, length of stay, or in-hospital mortality. Conclusions The clinical manifestations and outcomes of COVID-19 among patients with SARS-CoV-2 and HIV co-infection were not significantly different than patients without HIV co-infection. However, PWH were hospitalized with less severe hypoxemia, a finding that warrants further investigation.

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Cytogenetics of the acrotrisomic 5S5L in barley

Canadian Journal of Genetics and Cytology ◽

10.1139/g86-143 ◽

1986 ◽

Vol 28 (6) ◽

pp. 1026-1033 ◽

Cited By ~ 7

Author(s):

A. Shahla ◽

T. Tsuchiya

Keyword(s):

Gene Mapping ◽

Acrocentric Chromosome ◽

Distal Segment ◽

Segregation Ratio ◽

Proximal Segment ◽

Chromosome 5 ◽

Genetic Tests ◽

Seed Fertility ◽

High Transmission

An acrotrisomic plant was identified in the progeny of a telotrisomic for 1S. The acrocentric chromosome had a complete short arm (5S) and 40% of the proximal segment of the long arm (5L). Morphology of the acrotrisomic 5S5L was similar to the primary trisomic (triplo 5) and triplo 5L. At meiosis the acrocentric 5S5L either paired with its normal homologues forming a trivalent or remained as a univalent. Seed fertility was high. Transmission of the acrocentric was 37.6% through the female and 9% through the male. Genetic tests showed that fs2 and g were located in this 40% proximal segment of the 5L. Gene f3 showed a trisomic ratio with acrotrisomic 5S5L, but its arm location is not known. Two genes, f7 and trd, were located on the 60% distal segment of the 5L. The segregation ratio with gene int-a1 was also disomic but it could not be assigned to the 60% distal segment because its location on chromosome 5 is questionable at this time. This experiment demonstrates the usefulness of acrotrisomics in physical gene mapping by locating genes on a specific segment of the chromosome arm.Key words: acrotrisomic, barley, acrocentric, trisomic, telotrisomic.

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A case of chlamydia psittaci caused severe pneumonia and meningitis diagnosed by metagenome next-generation sequencing and clinical analysis: a case report and literature review

BMC Infectious Diseases ◽

10.1186/s12879-021-06205-5 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Yunfeng Shi ◽

Junxian Chen ◽

Xiaohan Shi ◽

Jiajia Hu ◽

Hongtao Li ◽

...

Keyword(s):

Next Generation Sequencing ◽

Fatal Case ◽

Invasive Mechanical Ventilation ◽

Clinical Manifestations ◽

Severe Pneumonia ◽

Chlamydia Psittaci ◽

Gene Probe ◽

Atypical Pneumonia ◽

Next Generation ◽

Generation Sequencing

Abstract Background Psittacosis, which is also known as parrot fever, is Chlamydia psittaci (C. psittaci) caused infectious disease. The clinical manifestations vary from asymptomatic infection to severe atypical pneumonia or even fatal meningitis. Early recognition of psittacosis is difficult because of its nonspecific clinical manifestations. Culture and gene probe techniques for C. psittaci are not available for routine clinical use, which makes the diagnosis difficult too. Although psittacosis has increasingly been recognized and reported in recent years, cure of severe pneumonia complicated with meningitis, with etiologic diagnosis aided by the use of metagenomic next-generation sequencing (mNGS), is still uncommon. So, it is necessary to report and review such potentially fatal case. Case presentation This report describes a 54-year-old woman with C. psittaci caused severe atypical pneumonia and meningitis. She presented with symptoms of fever, dry cough and dyspnea, accompanied by prominent headache. Her condition deteriorated rapidly to respiratory failure and lethargy under the treatment of empirical antibacterial agents, and was treated with invasive mechanical ventilation soon. She denied contact with birds, poultry or horses, but unbiased mNGS of both the bronchoalveolar lavage fluid (BALF) and the cerebrospinal fluid (CSF) identified sequence reads corresponding to C. psittaci infection, and there was no sequence read corresponding to other probable pathogens. Combined use of targeted antimicrobial agents of tetracyclines, macrolides and fluoroquinolones was carried out, and the patient’s condition improved and she was discharged home 28 days later. Her status returned close to premorbid condition on day 60 of follow-up. Conclusions When clinicians come across a patient with atypical pneumonia accompanied by symptoms of meningitis, psittacosis should be taken into consideration. mNGS is a promising detection method in such condition and is recommended.

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Application of metagenomic next-generation sequencing in the diagnosis of severe pneumonia caused by Chlamydia psittaci

BMC Pulmonary Medicine ◽

10.1186/s12890-021-01673-6 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Huan-huan Wu ◽

Lan-fang Feng ◽

Shuang-yan Fang

Keyword(s):

Mechanical Ventilation ◽

Next Generation Sequencing ◽

Invasive Mechanical Ventilation ◽

False Negative ◽

Clinical Manifestations ◽

Severe Pneumonia ◽

Chlamydia Psittaci ◽

Diagnostic Tools ◽

Next Generation ◽

Generation Sequencing

Abstract Purpose Psittacosis is a zoonotic infectious disease caused by the transmission of the bacterium Chlamydia psittaci (C. psittaci) from birds to humans. Infections in humans mainly present as community-acquired pneumonia (CAP). However, most cases are treated without diagnostic testing, and the importance of Chlamydia psittaci infection as a cause of CAP is therefore unclear. Diagnostic tools, including culture, serologic test, and PCR-based methods, are available but prone to false negative results. Metagenomic next-generation sequencing (mNGS) has been increasingly used in the diagnosis of infectious diseases, particularly when conventional diagnostic approaches have limitation. Detection of nucleic acid sequence of C. psittaci in respiratory tract samples by metagenomic next-generation sequencing (mNGS) is effective for early diagnosis of severe C. psittaci pneumonia. Timely treatment based on tetracycline can reduce unnecessary use of antibiotics and improve prognosis of patients with severe C. psittaci pneumonia. Methods Clinical data of thirteen patients with severe C. psittaci pneumonia diagnosed by mNGS were collected. Clinical manifestations, treatment and prognosis of patients were summarized. Results The typical symptoms of pneumonia caused by C. psittaci include fever, headache, myalgia, cough, and dyspnea. In the current study, all patients met the criteria for severe C. psittaci pneumonia and received mechanical ventilation, including noninvasive mechanical ventilation (five/thirteen) and invasive mechanical ventilation (eight/thirteen). The findings showed that patients with C. psittaci pneumonia presented with normal or slightly increased leucocytes and procalcitonin, and high C-reactive protein levels. Computed tomography manifestations included consolidation of lung parenchyma, with air bronchogram and pleural effusion in some patients. mNGS analysis results were obtained within 48–72 h. Eleven patients fully recovered after targeted treatment, however, two patients died from secondary multidrug-resistant Pseudomonas aeruginosa infection. Conclusions The findings of the current study show that mNGS is effective in diagnosis of C. psittaci pneumonia, and has significant diagnosis value in patients with severe infection. Patients responds well to the timely use of appropriate antibiotics.

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Lower Respiratory Tract Infection and Genus Enterovirus in Children Requiring Intensive Care: Clinical Manifestations and Impact of Viral Co-Infections

Viruses ◽

10.3390/v13102059 ◽

2021 ◽

Vol 13 (10) ◽

pp. 2059

Author(s):

Daniel Penela-Sánchez ◽

Jon González-de-Audicana ◽

Georgina Armero ◽

Desiree Henares ◽

Cristina Esteva ◽

...

Keyword(s):

Intensive Care ◽

Tract Infection ◽

Young Children ◽

Respiratory Tract ◽

Respiratory Tract Infection ◽

Lower Respiratory Tract Infection ◽

Lower Respiratory Tract ◽

Invasive Mechanical Ventilation ◽

Clinical Manifestations ◽

Clinical Severity

Infection by rhinovirus (RV) and enterovirus (EV) in children ranges from asymptomatic infection to severe lower respiratory tract infection (LRTI). This cohort study evaluates the clinical impact of RV/EV species, alone or in codetection with other viruses, in young children with severe LRTI. Seventy-one patients aged less than 5 years and admitted to the Paediatric Intensive Care Unit (PICU) of a reference children’s hospital with RV or EV (RV/EV) LRTI were prospectively included from 1/2018 to 3/2020. A commercial PCR assay for multiple respiratory pathogens was performed in respiratory specimens. In 22/71, RV/EV + respiratory syncytial virus (RSV) was found, and 18/71 had RV/EV + multiple viral detections. Patients with single RV/EV detection required invasive mechanical ventilation (IMV) as frequently as those with RSV codetection, whereas none of those with multiple viral codetections required IMV. Species were determined in 60 samples, 58 being RV. No EV-A, EV-C, or EV-D68 were detected. RV-B and EV-B were only found in patients with other respiratory virus codetections. There were not any associations between RV/EV species and severity outcomes. To conclude, RV/EV detection alone was observed in young children with severe disease, while multiple viral codetections may result in reduced clinical severity. Differences in pathogenicity between RV and EV species could not be drawn.

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Pediatric Intussusception: The Cinnamon Bun Sign

Journal of Diagnostic Medical Sonography ◽

10.1177/8756479318771612 ◽

2018 ◽

Vol 34 (4) ◽

pp. 275-280

Author(s):

Erica Poole ◽

Steven M. Penny

Keyword(s):

Abdominal Pain ◽

Clinical Symptom ◽

Pediatric Patient ◽

Acute Abdominal Pain ◽

Pediatric Population ◽

Clinical Manifestations ◽

Distal Segment ◽

Sonographic Examination ◽

Severe Disorder

Acute abdominal pain in the pediatric patient is a common clinical symptom often resulting in uncertainty and thus often subsequently leads to a sonographic examination of the abdomen. Sonography is often the modality of choice for pediatric abdominal imaging, and consequently, sonographers should have a fundamental appreciation for the causes of acute abdominal pain in the pediatric population. Intussusception, which is the telescoping of a proximal segment of bowel into a distal segment, is one potential cause of acute abdominal pain for these patients. This review clarifies the etiology and classification of intussusception and provides an overview of the clinical manifestations, sonographic identification, and treatment of this potentially severe disorder. Also, this review provides a novel imaging sign, called the “cinnamon bun” sign, that sonographers can employ while examining patients for possible intussusception. The cinnamon bun sign is a descriptive term that may be used to illustrate a transverse sonographic plane through an intussusception.

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Timely Recognition and Early Multi-Step Antinflammatory Therapy May Prevent ICU Admission of Patients With MIS-C: Proposal for a Severity Score

Frontiers in Pediatrics ◽

10.3389/fped.2021.783745 ◽

2021 ◽

Vol 9 ◽

Author(s):

Giacomo Brisca ◽

Alessandro Consolaro ◽

Roberta Caorsi ◽

Daniela Pirlo ◽

Giulia Tuo ◽

...

Keyword(s):

Therapeutic Strategy ◽

Therapeutic Response ◽

Invasive Mechanical Ventilation ◽

Clinical Manifestations ◽

Treatment Protocol ◽

Therapeutic Interventions ◽

Inotropic Drugs ◽

Function Impairment ◽

Treatment Escalation ◽

Inflammatory Syndrome

In this observational study, we report the clinical, therapeutics and outcome features of 23 patients with multisystem inflammatory syndrome (MIS-C) who have been treated in Gaslini Children Hospital (Genoa, Italy) with a multistep antinflammatory treatment protocol, based on disease severity at admission. Patients were initially assigned to four severity classes on admission and treated accordingly. The therapeutic options ranged from IV immunoglobulin alone to a combination of IVIG plus pulses of methylprednisolone plus anakinra for patients with marked cardiac function impairment or signs of macrophage activation syndrome, with rapid treatment escalation in case of inadequate therapeutic response. With the application of this therapeutic strategy, no patient required admission to Intensive Care Unit (ICU) or invasive mechanical ventilation, and no inotropic drugs administration was required. Early aggressive treatment of MIS-C, with therapeutic interventions modulated based on the severity of clinical manifestations may help to prevent the progression of the inflammatory process and to avoid the need of admission to the ICU. A timely intervention with anti-IL-1 blockers can play a pivotal role in very severe patients that are at risk to have an incomplete response to immunoglobulins and steroids.

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An unusual combined chromosomal rearrangement in a newborn with multiple congenital malformations due to a balanced parental translocation

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2021.06.51-60 ◽

2021 ◽

pp. 51-60

Author(s):

А.Г. Новикова ◽

Н.В. Опарина ◽

В.Г. Антоненко ◽

М.В. Кубрина ◽

Ю.Ю. Коталевская ◽

...

Keyword(s):

Reciprocal Translocation ◽

Congenital Malformations ◽

Chromosomal Rearrangement ◽

Clinical Manifestations ◽

Partial Trisomy ◽

Chromosome 9 ◽

Terminal Part ◽

Chromosome 5 ◽

Three Generations ◽

Healthy Carriers

Представлен случай сочетанной хромосомной патологии - частичной трисомии по субтеломерному участку длинного плеча хромосомы 5 и по протяжённому участку хромосомы 9 у новорождённого ребёнка с множественными врождёнными пороками развития и кариотипом 47,XY,t(5;9)(q35;q31),+der(9)t(5;9)(q35;q31)pat. Причиной хромосомного дисбаланса явилось редкое нарушение формирования гамет в мейозе II отца, являющегося носителем аутосомной реципрокной транслокации t(5;9)(q35;q31). Здоровые носители идентичной транслокации t(5;9)(q35;q31) были выявлены в трёх поколениях этой семьи. В статье описаны клинические проявления у пациента, обсуждаются возможные пути формирования такой хромосомной перестройки, а также проводится сравнительная характеристика фенотипических признаков на основе данных литературы. We report on a case of combined chromosomal pathology - partial trisomy on the terminal part of the long arm of chromosome 5 and partial trisomy on chromosome 9 in a newborn with multiple congenital malformations and karyotype 47,XY,t(5;9)(q35;q31),+der(9)t(5;9)(q35;q31)pat. The cause of the chromosomal pathology was a rare abnormality of the formation of gametes in the father’s meiosis II. He is the carrier of the autosomal reciprocal translocation t(5;9)(q35;q31). Healthy carriers of the identical t(5;9)(q35;q31) translocation were identified in three generations of this family. The clinical manifestations of the patient, the possible ways of forming the rearrangement of chromosomes, and the comparison of phenotypes based on the literature data are discussed.

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Survival and 30-days hospital outcome in hospitalized COVID-19 patients in Upper Egypt: Multi-center study

10.1101/2020.08.26.20180992 ◽

2020 ◽

Author(s):

Aliae Mohamed-Hussein ◽

Islam Galal ◽

Mohammed Mustafa Abdel Rasik Mohamed ◽

Mohamed Eltaher AA Ibrahim ◽

Shazly Baghdady Ahmed

Keyword(s):

Demographic Data ◽

Invasive Mechanical Ventilation ◽

Clinical Manifestations ◽

Related Factors ◽

Upper Egypt ◽

Cumulative Survival ◽

Icu Admission ◽

Hospital Outcome ◽

Multi Center Study ◽

Qsofa Score

Background: Determining the clinical features and outcomes of patients diagnosed with COVID-19 is fundamental to improve the understanding and adequate management of the novel illness. This study aims to identify the basic demography, underlying comorbidities and the mortality related factors of hospitalized patients with COVID-19 in Upper Egypt. Patients and methods: 1064 cases consecutively admitted to isolation hospitals in Upper Egypt. All cases had confirmed COVID-19 infection. The electronic records of the patients were retrospectively revised and the demographic data, clinical manifestations, qSOFA score on admission and 30 days-outcome (ICU admission, death, recovery, referral or still in hospital) were analyzed. Overall cumulative survival in all patients and those > or < 50 years were calculated. Results 49.2% of the study population were males while 50.8% females with mean age 49.4 years-old. On admission, 83.9% were stable with qSOFA score < 1, 3% required non- invasive mechanical ventilation, and 2.1% required O2 therapy. Within 30 days, 203 cases (19.1%) required admission to ICU. Death was recorded in 11.7% of cases, 28.7% recovered, 40.5% referred and 19.2% were still under treatment. Determinants of ICU admission and survival in the current study were age > 50, respiratory rate > 24/minute, SaO2 < 89%, qSOFA >1 and need for O2 therapy or NIV. The cumulative survival was 75.3% with the mean survival was 28.1, and 95.2% overall survival was recorded in those aged < 50 years. Conclusions Age older than 50 years old, those with pre-existing DM, initial qSOFA score, requirement for O2 therapy and NIV from the first day of hospital admission may be associated with unfavorable 30 days- in hospital outcome of COVID- 19.

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Characteristics and outcomes of cases of children and adolescents with pediatric inflammatory multisystem syndrome in a tertiary care centre in Mexico City.

10.1101/2021.12.23.21268188 ◽

2021 ◽

Author(s):

Ricardo Gil Guevara ◽

Maria de Lourdes Marroquin Yanez ◽

Rodolfo Norberto Jimenez-Juarez ◽

Victor Olivar Lopez ◽

Adrian Chavez Lopez ◽

...

Keyword(s):

Mexico City ◽

Invasive Mechanical Ventilation ◽

Tertiary Care ◽

Clinical Manifestations ◽

Gastrointestinal Symptoms ◽

Case Definition ◽

Kawasaki Syndrome ◽

Tertiary Care Centre ◽

Cardiac Damage ◽

Coronary Aneurysms

Background: pediatric inflammatory multisystem syndrome (PIMS) is a complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children that resembles Kawasaki syndrome and poses children at high risk of cardiorespiratory instability and/or cardiac damage. This study aims to describe the clinical presentation and outcomes of patients with PIMS in Mexico City. Methods: this was an observational study (May 1, 2020, to September 30, 2021) of children with PIMS according to Centers of Disease Control and Prevention case definition criteria, hospitalized in a single tertiary care pediatric center in Mexico City. Demographic characteristics, epidemiological data, medical history, laboratory tests, cardiology evaluations, treatment, and clinical outcomes were analyzed. Results: Seventy-five cases fulfilled case-definition criteria for PIMS (median age 10.9 years, IQR: 5.6-15.6). Fifteen (20%) had a severe underlying disease. Forty-eight cases (64%) were admitted to the intensive care unit, 33 (44%) patients required invasive mechanical ventilation, and 39 (52%) received vasopressor support. Two distinct groups of patients were identified: cluster 1 (n=60) who had rash or gastrointestinal symptoms and cluster 2 (n=15) with predominantly respiratory manifestations. Two cases (2.7%) died, both with severe underlying conditions. Five cases (6.7%) developed coronary aneurysms, all of them from cluster 1. Conclusion: clinical manifestations and outcomes are in general comparable what has been previously reported in international series. In our series, there was a high proportion of patients with severe respiratory involvement and positive RT-PCR SARS-CoV-2 and a low frequency of coronary aneurysms which suggests a possible higher proportion of children with severe acute COVID-19 in our included cases.

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