scholarly journals Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin–Johnson Syndrome in a Large Case Series From the Arabs

2021 ◽  
Vol 9 ◽  
Author(s):  
Abdulrahman Al-Hussaini ◽  
Badr AlSaleem ◽  
Hamad AlHomaidani ◽  
Ali Asery ◽  
Muhanad Alruwaithi ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Case Reports ◽  
Far East ◽  
Case Series ◽  
Normal Liver ◽  
Neonatal Cholestasis ◽  
Missense Variants ◽  
Molecular Features ◽  
Neonatal Onset ◽  
Johnson Syndrome

Background: There are only a few case reports and small case series on neonatal-onset Dubin–Johnson syndrome (DJS), particularly from Far-East Asia, Iranian and Moroccan Jews, and Europe.Objectives: In this first study from the Arabs and the largest series reported to date, we characterized the clinical, laboratory, and molecular features and outcome of gene-confirmed neonatal-onset DJS.Methods: We reviewed our database of 533 cases of neonatal cholestasis that presented to our center during the period from 2008 to 2019. We identified neonates with a disease-causing mutation in ABCC2 gene.Results: Twenty-eight neonates with DJS were diagnosed (5.3%). All of the 28 were full-term, well looking neonates without hepatosplenomegaly, with cholestasis, and normal liver synthetic function since the 1 week of life that resolved within 3–6 months of age, followed by a benign course punctuated by recurrent episodes of jaundice in 43% during a median follow up period of 9.25 (range 2.5–14 years). Alanine aminotransferase levels were within normal range in 26 patients (92%) and mildly elevated in two patients. ALT levels were significantly lower in neonates with DJS than in other cases with neonatal cholestasis from other causes (p < 0.001). The median urinary coproporphyrin I% was 88% (IQ1–IQ3 = 84.2–92.7%). We identified four homozygous variants in the ABCC2 gene (from 22 unrelated families), one splicing variant (c.3258+1G>A; p.?), and three were missense variants; two of which were novel missense variants [c.1594G>A (p.Glu532Lys) and c.2439G>C (p.Lys813Asn)]. The p.Gly758Val mutation has occurred in 23 patients (from 19 unrelated families).Conclusions: Our study suggests that normal ALT-cholestasis in a well-looking neonate should trigger evaluation for DJS. The p.Gly758Val variant in ABCC2 is the most predominant mutation among Arabs with “founder effects.” Identification of the predominant ABCC2 variant in any population is likely to facilitate rapid molecular analysis by future targeting of that specific mutation.

scholarly journals Cardio-Pulmonary Sequelae in Recovered COVID-19 Patients: Considerations for Primary Care

2021 ◽  
Vol 12 ◽  
pp. 215013272110237
Author(s):  
Zouina Sarfraz ◽  
Azza Sarfraz ◽  
Alanna Barrios ◽  
Radhika Garimella ◽  
Asimina Dominari ◽  
...  
Keyword(s):  
Primary Care ◽  
Primary Infection ◽  
Clinical Laboratory ◽  
Point Of Care ◽  
Case Reports ◽  
Case Series ◽  
Infectious Complications ◽  
Care Physician ◽  
Cross Sectional ◽  
Infection Period

Background: Current literature lacks characterization of the post-recovery sequelae among COVID-19 patients. This review characterizes the course of clinical, laboratory, radiological findings during the primary infection period, and the complications post-recovery. Primary care findings are presented for long-COVID care. Methods: Adhering to PRISMA guidelines, 4 databases were searched (PubMed, Embase, CINAHL Plus, Scopus) through December 5, 2020, using the keywords “COVID-19 and/or recovered and/or cardiovascular and/or long-term and/or sequelae and/or sub-acute and/or complication.” We included published peer-reviewed case reports, case series, and cross-sectional studies providing the clinical course of COVID-19 infection, and cardiopulmonary complications of patients who recovered from COVID-19, while making healthcare considerations for primary care workers. Results: We identified 29 studies across 9 countries including 37.9% Chinese and 24.1% U.S. studies, comprising 655 patients (Mean Age = 45) with various ethnical backgrounds including Asian and European. Based on the WHO COVID-19 severity classification scale, initial disease severity was mild for 377 patients and severe for 52 patients. Treatments during primary infection included corticosteroids, oxygen support, and antivirals. The mean value (in days) for complication onset after acute recovery was 28 days. Complete blood counts and RT-PCR tests were the most common laboratory results described. In 22 of the studies, patients showed signs of clinical improvement and were prescribed medications such as anticoagulants or corticosteroids. Conclusion: Post-recovery infectious complications are common in long-COVID-19 patients ranging from mild infections to life-threatening conditions. International thoracic and cardiovascular societies need to develop guidelines for patients recovering from COVID-19 pneumonia, while focused patient care by the primary care physician is crucial to curb preventable adverse events. Recommendations for real-time and lab-quality diagnostic tests are warranted to establish point-of-care testing, detect early complications, and provide timely treatment.

scholarly journals Carbamazepine-induced Stevens Johnson syndrome: a case series of three case reports

2015 ◽  
pp. 797-801 ◽  
Author(s):  
Arvind Kumar ◽  
Dinesh Kansal ◽  
Usha Chaudhary ◽  
Ajay Sharma ◽  
Reena Sharma
Keyword(s):  
Case Reports ◽  
Case Series ◽  
Stevens Johnson Syndrome ◽  
Johnson Syndrome

scholarly journals Acute Myeloid Leukemia in Patients Living with HIV Infection: Several Questions, Fewer Answers

2020 ◽  
Vol 21 (3) ◽  
pp. 1081
Author(s):  
Fabio Forghieri ◽  
Vincenzo Nasillo ◽  
Francesca Bettelli ◽  
Valeria Pioli ◽  
Davide Giusti ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Hiv Infection ◽  
Myeloid Leukemia ◽  
Case Reports ◽  
Case Series ◽  
People Living With Hiv ◽  
Hematopoietic Stem ◽  
Molecular Features ◽  
Living With Hiv ◽  
Acute Myeloid

Both human immunodeficiency virus (HIV) infection and acute myeloid leukemia (AML) may be considered relatively uncommon disorders in the general population, but the precise incidence of AML in people living with HIV infection (PLWH) is uncertain. However, life expectancy of newly infected HIV-positive patients receiving anti-retroviral therapy (ART) is gradually increasing, rivaling that of age-matched HIV-negative individuals, so that the occurrence of AML is also expected to progressively increase. Even if HIV is not reported to be directly mutagenic, several indirect leukemogenic mechanisms, mainly based on bone marrow microenvironment disruption, have been proposed. Despite a well-controlled HIV infection under ART should no longer be considered per se a contraindication to intensive chemotherapeutic approaches, including allogeneic hematopoietic stem cell transplantation, in selected fit patients with AML, survival outcomes are still generally unsatisfactory. We discussed several controversial issues about pathogenesis and clinical management of AML in PLWH, but few evidence-based answers may currently be provided, due to the limited number of cases reported in the literature, mainly as case reports or small retrospective case series. Prospective multicenter clinical trials are warranted to more precisely investigate epidemiology and cytogenetic/molecular features of AML in PLWH, but also to standardize and further improve its therapeutic management.

Characterisation and treatment of patients with castration-resistant metastatic prostate cancer (mCRPC) developing neuroendocrine clonal divergence (NCD): A case series.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e16520-e16520
Author(s):  
Thomas Bauernhofer ◽  
Jelena Belic ◽  
Martin Pichler ◽  
Angelika Bezan ◽  
Ellen Heitzer ◽  
...  
Keyword(s):  
Progressive Disease ◽  
Clinical Laboratory ◽  
Tumour Progression ◽  
Case Series ◽  
Treatment Phase ◽  
Metastatic Spread ◽  
Endocrine Treatment ◽  
Laboratory Findings ◽  
Genetic Profiling ◽  
Molecular Features

e16520 Background: The introduction of Abiraterone (Abi) and Enzalutamide (Enza) into treatment of mCRPC has led to a survival benefit. However, in a subset of patients treated with Enza/Abi, rapidly progressive disease with atpical metastatic spread develops. According to Eric Small et al. (ASCO 2015 Abstract 5003), 39% of metastases in mCRPC-patients treated with Enza/Abi have small cell neuroendocrine or mixed type histologies. Based on these findings we aimed at characterising NCD in a case series of 8 patients using 1) clinical, laboratory, radiological parameters, 2) molecular features generated by liquid biopsy and 3) to present outcome variables after treatment of these patients with combination chemotherapy carboplatin/etoposide (CE). Methods: Clinical, radiological, laboratory parameters, whole-genome sequencing of cfDNA (PlasmaSeq) and ctDNA taken at different time points during treatment were ascertained from 8 mCRPC-patients with NCD. Results: All patients presented with rapid tumour progression and atpical metastatic spread (3x liver, 3x lungs, 1x skin, 1x adrenal glands) during treatment with Enza/Abi. Laboratory findings revealed marked increase in CRP, AP and LDH levels and elevation of NSE ( > 5x times upper normal limit), whilst PSA levels were low or declining. All patients received Carboplatin AUC5 day 1 and Etoposid 100 mg/m3 day 1-3 q3w. In 7 out of 8 patients, initially high levels of CRP, LDH, AP and NSE decreased under CE therapy. Very good partial response on radiological examination was observed after 3-6 cycles of CE in these patients. One patient had progressive disease. Copy number profiles of ctDNA taken peri-interventionally revealed loss of androgen receptor and a clonal shift in comparison to profiles taken during endocrine treatment phase. Conclusions: Rapid clinical and radiologic progression, atypical metastases and sharp rise in LDH, CRP, AP and NSE levels combined with low PSA are indicative of NCD. For these patients, CE-based chemotherapy is a promising treatment option. In order to identify clonal shift from adenocarcinoma to neuroendocrine cancer, genetic profiling using ctDNA may be of use.

Gastrointestinal Tract Plasmablastic Lymphoma in HIV-Infected Adults: A Histopathological Review

2020 ◽  
Vol 28 (7) ◽  
pp. 735-748
Author(s):  
Absalom Mwazha ◽  
Gamalenkosi Bonginkosi Nhlonzi ◽  
Pedzisai Mazengenya
Keyword(s):  
Gastrointestinal Tract ◽  
B Cell ◽  
Plasma Cell ◽  
Growth Pattern ◽  
Case Reports ◽  
Case Series ◽  
B Cell Lymphoma ◽  
Plasmablastic Lymphoma ◽  
Histopathological Features ◽  
Molecular Features

Background. Plasmablastic lymphoma (PBL) is an aggressive B-cell lymphoma that is characterized by the expression of plasma cell antigens and loss of pan B-cell antigens. The neoplasm is extensively reported in the oral cavity and anorectal region but rarely in the gastrointestinal tract, where only isolated case reports and small case series have been reported. In the current study, morphologic, immunohistochemical, and molecular features of 17 cases of gastrointestinal tract PBL were reviewed. Methods. Ten-year retrospective study that reappraised the histomorphological and immunophenotypical profiles of HIV-associated PBLs in the gastrointestinal tract. Results. The mean age of the study patients was 41 years with a 3:1 ratio of males to females. The most common site of tumor origin was the small intestine (42%), followed by the stomach (29%) and the colon (29%). Majority of the cases showed a predominant diffuse (82%) growth pattern. Immunoblasts and plasmablasts were observed in all cases. Plasmacytic differentiation was seen in 5 (29%) cases. Additional observations not previously described or emphasized in literature includes pseudo-alveolar growth pattern, centroblast-predominance, multinucleated giant cells, and clear cell change. Immunohistochemistry revealed absence of pan B-cell antigens and expression of plasma cell antigens in all cases. Epstein-Barr virus–encoded RNA was expressed in 53% of the cases. Conclusions. This study highlights the spectrum of histopathological features seen in gastrointestinal tract PBLs. Awareness of this entity and its histopathological features in the gastrointestinal tract is essential for making a timely and accurate diagnosis and improving patient outcomes.

scholarly journals COVID-19-Associated Encephalitis:  Systematic Review of Case ReportsFindings on Cytokine-Immune-Mediated Inflammation as an Underlying Mechanism

2020 ◽  
Author(s):  
Yusak M.T. Siahaan ◽  
Vivien Puspitasari ◽  
Aristo Rinaldi Pangestu
Keyword(s):  
Clinical Laboratory ◽  
Case Reports ◽  
Case Series ◽  
Underlying Mechanism ◽  
Direct Invasion ◽  
Csf Analysis ◽  
Immune Mediated ◽  
Stable Conditions ◽  
Imaging Results ◽  
Intravenous Steroids

Abstract Background : Although severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) primarily attacks the respiratory system resulting to a disease called coronavirus disease 19 (COVID-19), several studies also reported the involvement of the central nervous system along the course of the disease, one of which manifest as encephalitis. This study aims to determine the clinical profile, laboratory, and imaging results of encephalitis associated with COVID-19.Methods : Three databases namely, PubMed / Medline, Embase, and Scopus were systematically used in the search for this literature, in order to gather case reports and case series related to COVID-19-associated encephalitis published from January 1, 2019 to July 20, 2020.Result: There were 24 studies with 33 cases included in this review. The most reported neurological symptoms were disorientation / confusion (72.72%), decreased consciousness (54.54%), and seizures (27.27%). The laboratory examination showed an increase in the levels of C-reactive protein (48.48%), lactate dehydrogenase (30.3%), and lymphophenia (27.27%). The brain imaging examination did not show any pathological findings in half of the cases (51.51%). EEG (electroencephalography) showed a generalized decrease in 45.45% of the cases. The CSF analysis showed an increase in the levels of protein (42.42%) and lymphocytosis (24.24%). Positive cerebrospinal fluid polymerase chain reaction (PCR) was only found in 3 cases, while the most widely used pharmacological agent was hyroxychloroquine (48.48%). Intravenous steroids were given in 8 cases, while immunotherapy such as plasmapheresis and intravenous immunoglobulin were given in 10 cases. Fifteen patients were reported to be discharged from the hospital in stable conditions, while four mortality cases were recorded. Conclusion: The clinical, laboratory, and imaging findings in this review supported the hypothesis that the process of cytokine-immune mediated inflammation was the cause of cerebral damage in COVID-19-associated encephalitis, rather than direct invasion. However, due to the limited availabile facilities in this study, further research and examination are needed to confirm the hypothesis

scholarly journals Eosinophilic pancreatitis versus pancreatitis associated with eosinophilic gastroenteritis – a systematic review regarding clinical features and diagnosis

2019 ◽  
Vol 57 (4) ◽  
pp. 284-295 ◽  
Author(s):  
Larisa Pinte ◽  
Cristian Băicuș
Keyword(s):  
Clinical Laboratory ◽  
Case Reports ◽  
Hypereosinophilic Syndrome ◽  
Case Series ◽  
Eosinophilic Gastroenteritis ◽  
Eosinophil Infiltration ◽  
Imaging Features ◽  
Adequate Treatment ◽  
Invasive Approach ◽  
Significant Difference

Abstract Background. Over the past years, eosinophil infiltration involving the gastrointestinal tract and pancreas leading to eosinophilic pancreatitis, eosinophilic gastroenteritis and hypereosinophilic syndrome has been reported in the literature. We aimed to analyze and compare the features involving patients with eosinophilic pancreatitis and pancreatitis associated with eosinophilic gastroenteritis and to determine if there is a connection between the two disorders or if they in fact meet the diagnostic criteria for hypereosinophilic syndrome. Material and methods. The following search was performed in March 2019 on PubMed (MEDLINE) database using the medical terms “pancreatitis”, “eosinophilic pancreatitis”, “eosinophilic gastroenteritis” and “hypereosinophilic syndrome”. Results. The search revealed 119 publications from 1970 onwards. A total of 83 papers were excluded, and the remaining 36 publications, consisting in case reports and case series, were analyzed. From 45 patients, 20 subjects with eosinophilic gastroenteritis developed pancreatitis, 20/45 had eosinophilic pancreatitis, and 5/45 hypereosinophilic syndrome involving the pancreas. There was no significant difference regarding clinical, laboratory and imaging features between the three groups, despite the multiple theories that explain the association of pancreatic and gastrointestinal eosinophilic infiltration. Although there was a strong resemblance between the three groups, histological evidence of eosinophilic gastrointestinal infiltration guided the treatment towards a less invasive way, while subjects with eosinophilic pancreatitis underwent pancreatic surgery to exclude potentially malignant lesions. Conclusion. Although there are various theories that explain pancreatitis development in patients with eosinophilic gastroenteritis, hypereosinophilia diagnostic work-up should be taken into account in all patients with high number of blood eosinophils, even in those with eosinophilic pancreatitis in order to establish the diagnosis using a minimally invasive approach and to apply an adequate treatment.

Cannabis-associated arteritis

VASA ◽  
2010 ◽  
Vol 39 (1) ◽  
pp. 43-53 ◽  
Author(s):  
Grotenhermen
Keyword(s):  
Systematic Review ◽  
Case Reports ◽  
Case Series ◽  
Cardiovascular Effects ◽  
Causative Factor ◽  
Cannabis Use ◽  
Thromboangiitis Obliterans ◽  
Pathological Features ◽  
Scientific Support ◽  
Clinical And Pathological Features

Background: To investigate the hypothesis that cases of arteritis similar to thromboangiitis obliterans (TAO) and associated with the use of cannabis were caused by cannabis or THC (dronabinol), or that cannabis use is a co-factor of TAO. Patients and methods: A systematic review on case reports and the literature on so-called cannabis arteritis, TAO, and cardiovascular effects of cannabinoids was conducted. Results: Fifteen reports with 57 cases of an arteritis associated with the use of cannabis and two additional case series of TAO, in which some patients also used cannabis, were identified. Clinical and pathological features of cannabis-associated arteritis do not differ from TAO and the major risk factor of TAO, tobacco use, was present in most, if not in all of these cases. The proposed pathophysiological mechanisms for the development of an arteritis by cannabis use are not substantiated. Conclusions: The hypothesis of cannabis being a causative factor or co-factor of TAO or an arteritis similar to TAO is not supported by the available evidence. The use of the term “cannabis arteritis” should be avoided until or unless more convincing scientific support is forthcoming.

Thrombosis in Cancer Patients Treated with Hematopoietic Growth Factors - A Meta-Analysis

1996 ◽  
Vol 75 (02) ◽  
pp. 368-371 ◽  
Author(s):  
T Barbul ◽  
G Finazzi ◽  
A Grassi ◽  
R Marchioli
Keyword(s):  
Cancer Patients ◽  
Case Reports ◽  
Meta Analysis ◽  
Case Series ◽  
Hematopoietic Growth Factors ◽  
Patients With Cancer ◽  
Cytotoxic Treatment ◽  
Pertinent Data ◽  
Thrombotic Complications ◽  
Vascular Occlusions

SummaryHematopoietic colony-stimulating factors (CSFs) are largely used in patients with cancer undergoing cytotoxic treatment to accelerate neutrophil recovery and decrease the incidence of febrile neutropenia. Clinical practice guidelines for their use have been recently established (1), taking into account clinical benefit, but also cost and toxicity. Vascular occlusions have been recently reported among the severe reactions associated with the use of CSFs, in anedoctal case reports (2, 3), consecutive case series (4) and randomized clinical trial (5, 6). However, the role of CSFs in the pathogenesis of thrombotic complications is difficult to ascertain, because pertinent data are scanty and widely distributed over a number of heterogenous investigations. We report here a systematic review of relevant articles, with the aims to estimate the prevalence of thrombosis associated with the use of CSFs and to assess if this rate is significantly higher than that observed in cancer patients not receiving CSFs.

Herpetic Whitlow of the Hand in Infants

2020 ◽  
Author(s):  
Mohammad M. Al-Qattan ◽  
Nada G. AlQadri ◽  
Ghada AlHayaza
Keyword(s):  
Bacterial Infection ◽  
Case Reports ◽  
Case Series ◽  
Individual Case ◽  
Senior Author ◽  
Secondary Bacterial Infection ◽  
Clinical Appearance ◽  
History Of ◽  
Mode Of Transmission ◽  
Time Of Presentation

Abstract Introduction Herpetic whitlows in infants are rare. Previous authors only reported individual case reports. We present a case series of six infants. Materials and Methods This is a retrospective study of six cases of herpetic whitlows in infants seen by the senior author (MMA) over the past 23 years (1995–2017 inclusive). The following data were collected: age, sex, digit involved in the hand, mode of transmission, time of presentation to the author, clinical appearance, presence of secondary bacterial infection, presence of other lesions outside the hand, method of diagnosis, treatment, and outcome. Results All six infants initially presented with classic multiple vesicles of the digital pulp. In all cases, there was a history of active herpes labialis in the mother. Incision and drainage or deroofing of the vesicles (for diagnostic purposes) resulted in secondary bacterial infection. Conclusion The current report is the first series in the literature on herpetic whitlows in infants. We stress on the mode of transmission (from the mother) and establishing the diagnosis clinically. In these cases, no need for obtaining viral cultures or polymerase chain reaction; and no medications are required. Once the vesicles are disrupted, secondary bacterial infection is frequent and a combination of oral acyclovir and intravenous antibiotics will be required.

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