The role of lipopolysaccharide as a marker of immune activation in HIV-1 infected patients: a systematic literature review

ABSTRACT: BACKGROUND: Recent observational studies suggest a role for lipopolysaccharide (LPS) as a marker of immune activation in HIV-infected patients, with potential repercussions on the effectiveness of antiretroviral regimens.ObjectA systematic review of LPS as a marker of immune activation in HIV-1 infected patients. DATA SOURCES: MEDLINE register of articles and international conference proceedings. REVIEW METHODS: Case--control studies comparing the role of plasma LPS as a marker of immune activation in HIV-infected patients versus HIV negative subjects.Data synthesisTwo hundred and six articles were selected using MEDLINE, plus 51 studies presented at international conferences. Plasma LPS is a marker of immune activation in HIV-infected patients, determining the entry of central memory CD4+ T cells into the replication cycle and finally generating cell death. Plasma LPS probably results from immune-mediated alterations of the intestinal barrier, which can occur soon after HIV seroconversion. LPS is a likely marker of disease progression, as it drives chronic monocyte activation, and some studies suggest that hyperexpression of CCR5 receptors, related to LPS plasma levels, could be responsible for monocyte trafficking in the brain compartment and for the appearance of HIV-associated neurocognitive disorders. Long-term combination antiretroviral therapy (cART) generally reduces LPS concentrations, but rarely to the same levels as in the control group. This phenomenon probably depends on ongoing but incomplete repair of the mucosal barrier. Only in patients achieving maximal viral suppression (i.e. viral load < 2.5 cp/ml) are LPS levels comparable to healthy donors. In successfully treated patients who did not restore CD4+ T cells, one hypothesis is that the degree of residual microbial translocation, measured by LPS, alters the turnover of CD4+ T cells. CONCLUSIONS: LPS is a marker of microbial translocation, responsible for chronic immune activation in HIV-infected patients. Even in successfully treated patients, LPS values are rarely normal. Several studies suggest a role for LPS as a negative predictive marker of immune restoration in patients with blunted CD4 T cell gain.     

Endotoxin as modifier of particulate matter toxicity: a review of the literature

It is well known that particulate matter (PM) and endotoxin are able to trigger inflammatory responses in the lung. Most studies have focused on the components separately and on the identification of chemical components associated with PM. However, since biological components may represent around 20% of airborne PM, and endotoxin may reach concentrations as high as 30 EU/mg, recent studies have focused attention on the characterization of endotoxin present in PM and health effects. Most of the literature has suggested that endotoxin adsorbed in PM is able to elicit immunological responses associated with increase in pro-inflammatory cytokine expression. The aim of this paper is to provide an up to date review of the findings involving toxicity effects of endotoxin associated with PM.     

Trisomy 7p: report of 2 patients and literature review

Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.     

Temozolomide-related infections: review of the literature

Temozolomide (TMZ) is an alkylating, antineoplastic agent which is being used to treat cases of refractory anaplastic astrocytoma, newly-diagnosed glioblastoma multiforme and metastatic melanoma. TMZ causes lymphopenia and T-cell dysfunction in most of the patients. Related to this toxicity several opportunistic infections have been reported in the literature, but were not well characterized. To further investigate this topic, relevant English language studies were identified through Medline. There were 36 previously reported cases of infection related to TMZ. The median age of the cases was 55 years (range 33-73). The most frequently experienced infections were mucocutaneous candidiasis (n=11; 28.2%), herpes zoster (n=5; 12.8%), herpes simplex virus (n=4; 10.2%), cytomegalovirus (CMV) (n=5; 12.8%), pneumocystis carinii pneumonia (PCP) (n=3; 7.6%), hepatitis B virus (HBV) (n=2; 5.1%) and others (n=9; 23%). Mortality rates were 28.5% (n=4/14) in patients with reported outcome. In this survey, about one third of the TMZ-related severe infections resulted in death. Patients treated with TMZ are at increased risk for opportunistic viral and bacterial infection. Therefore, close monitoring of patients receiving TMZ for opportunistic infections should be carried out.     

Ring chromosome 10: report on two patients and review of the literature

Ring chromosome 10—r(10)—is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.3q26.2) with a 7.9 Mb deletion in 10q26.2-q26.2, while patient 2 showed a r(10)(p15.3q26.13) with a 1.0 Mb deletion in 10p15.3 and a 8.8 Mb deletion in 10q26.13-q26.3, both unstable. While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed legs, and dermal pigmentation regions. Our data and the data from literature show that there are no specific clinical findings to define a r(10) syndrome.     

Podocyturia as an early diagnostic marker of preeclampsia: a literature review

Context: Preeclampsia (PE) is a pregnancy-related disease, and it is a leading cause of maternal and neonatal morbidity and mortality. It is characterized by the new onset of hypertension after 20?weeks of gestation together with signs of organ damage, most commonly the kidneys. The treatment of PE is symptomatic and final intervention requires delivery, regardless of the gestational age of the foetus. Furthermore, PE is a risk factor for developing cardiovascular disease and chronic kidney disease – even many years after the delivery.

Objective: Current research of PE has revealed that detection of podocytes in urine (podocyturia) could be a useful method for both confirmation of PE diagnosis and for the prediction of the severity of the disease.

Conclusion: The main aim of this review is to summarize the current state of available methods for podocyte detection and to discuss their relevance in clinical practice.     

Proteus syndrome: Clinical profile of six patients and review of literature

OBJECTIVE:

Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was to describe clinical profile of this rare condition in six patients.

MATERIALS AND METHODS:

Retrospective case sheet review of patients followed in a Pediatric Genetic and Metabolic clinic at a tertiary care institute of North India with a diagnosis of hemihypertrophy/overgrowth syndrome.

RESULTS:

Six cases presented with asymmetric overgrowth and peculiar features suggestive of PS were included in this study. Age at presentation was 2 months to 10 years; two were males and four were females. Hemihypertrophy was noticed in only one case at birth, and focal overgrowths in rest of other patients were seen later during childhood.

CONCLUSION:

Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition.     

Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

BACKGROUND:

Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder, characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes, and mental retardation. Very few cases are reported in literature from developing countries. Diagnosis is often delayed due to non-familiarity with the characteristic features of this syndrome.

AIMS:

To report 11 cases of RSTS and to review the current literature.

SETTINGS AND DESIGN:

Retrospective study conducted in genetic and metabolic unit of a tertiary care teaching hospital in north India over a period of 3½ years.

MATERIALS AND METHODS:

11 patients with diagnosis of RSTS were identified, and their case sheets were reviewed.

RESULTS:

Developmental delay was presenting complaint in 10 patients, and seizure in 1 case. 7 patients had microcephaly (head circumference below −3 SD), and a prominent beaked nose was seen in 9 patients. The intelligence quotient (IQ) varied from 22-62 in 7 patients who had mental retardation. The most notable features in hands were broadness, shortening, and flattening of the distal phalanx of thumbs or great toes. Additionally, we also noted webbing of neck, microphthalmia, and pachygyria (on MRI brain) in 1 patient each.

CONCLUSIONS:

The diagnosis of RSTS is primarily clinical and based on characteristic phenotype that is often combined with a variety of somatic anomalies. An early diagnosis facilitates appropriate genetic counseling and in planning the management.     

Thallium as an industrial poison (review of literature).

The presented reports on cases of occupational thallium poisoning clearly demonstrate that the possibility of their occurrence in industrial plants is very real. The number of such intoxications is much higher than that of non-industrial poisonings, but this is predominantly due to the less pronounced clinical picture and to the fact that specific tests for thallium are not performed. As a result, these cases partly escape registration altogether and partly are wrongly diagnosed. Thallium and its compounds belong to the first class of poisons, their dangerousness being enhanced by their easy permeability through the skin. Industrial thallium poisoning can be either acute or chronic, but in all cases, it is characterized by a long duration and severity of its course. Strict hygienic demands on the organization of the technological process and the measures of protection of persons working with thallium are indispensable. Compulsory examination of the urine of those working with thallium for the presence of this substance should also be introduced.     

Hairy cell leukemia associated with carcinoma: report of two patients and review of the literature

The association of carcinoma and hairy cell leukemia (HCL) in two patients is recorded. One of the cases was a 58-year-old male who developed carcinoma of the kidney, while the second patient was a 48-year-old woman with carcinoma in the breast. This rare association is probably coincidental, as it is not described in most of the larger reported series of patients with HCL. It is of interest to note that the first patient had received radiation therapy thirty years before the diagnosis of HCL and carcinoma was made.     

Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature

Objectives

To study the present treatment situation and investigate a better orthodontic approach for patients with cleidocranial dysplasia (CCD) through systematically reviewing the published cases and to conclude the surgical-orthodontic treatment experience of cleidocranial dysplasia.

Methods

A comprehensive search for studies published through to April 10, 2018 was conducted using the Pubmed, Web of Science, and Embase databases. The CCD cases treated with the approach combining surgical exposure and orthodontic treatment were concluded.

Results

Eight papers and 9 finished cases were included to be compared with the present case. The age of cases ranged from 9 to 28?years. Clearing the way of eruption path in early age can facilitate the spontaneous eruption of impacted teeth. For adults, combined surgical-orthodontic treatment can achieve a nearly complete dentition and stable occlusal contact, but it is time consuming and needs surgical assistance. The combination of orthognathic surgery can reduce the difficulty of orthodontic treatment and treatment duration, as well as achieve a better facial profile.

Conclusion

Surgical exposure combined with orthodontic traction is an effective treatment for patient with CCD. Patient’s age, demand, economic circumstances, and status of permanent dentition should be considered when making treatment plan.

     

MicroRNAs expression profiles as diagnostic biomarkers of gastric cancer: a systematic literature review

Objective: The early identification of gastric cancer (GC) represents a major clinical challenge. We conducted a systematic review of studies evaluating the miRNA expression profiling as a diagnostic tool in GC.

Methods: We performed a search of PubMed, ISI Web of Science and SCOPUS databases for studies on diagnostic miRNAs and GC, published in English up to October 2017. Eligibility criteria included case-control studies evaluating blood or tissue-based miRNA expression profiles, and incorporating at least two detection phases (screening and validation).

Results: We included 27 eligible studies, that reported on 97 deregulated miRNAs either in blood or tissue, out of which 30 were reported in at least two studies. Among 22 studies on tissue-diagnostic miRNAs, 13 consistently upregulated miRNAs (miR-214, miR-21, miR-103, miR-107, miR-196a, miR-196b, miR-7, miR-135b, miR-222, miR-23b, miR-25, miR-92 and miR-93), and six consistently downregulated miRNAs (miR-148a, miR-375, miR-133b, miR-30a, miR-193a and miR-204) were reported. Ten miRNAs with inconsistent direction of expression in tissues were identified. Among the five studies performed on blood samples, only one miRNA was consistently upregulated (miR-20a).

Conclusions: This review shows that some tissue or blood miRNAs may be considered as potential biomarkers for GC diagnosis, that urgently needs to be confirmed from large prospective studies.     

Orofacial findings in chronic granulomatous disease: report of twelve patients and review of the literature

Background

Chronic granulomatous disease is an extremely rare primary immunodeficiency syndrome that can be associated with various oral complications. This can affect high number of patients. However, data on oral complications is sparse. Here we will review the literature and describe the orofacial findings in 12 patients.

Findings

The age range was 5-31 years. Oral findings were variable, and reflected a low level of oral hygiene. They included periodontitis, rampant caries, gingivitis, aphthous-like ulcers, and geographic tongue. One patient had white patches on the buccal mucosa similar to lichen planus. Another patient had a nodular dorsum of the tongue associated with fissured and geographic tongue. Biopsies from the latter two lesions revealed chronic non-specific mucositis. Panoramic radiographs showed extensive periodontitis in one patient and periapical lesions in another patient.

Conclusion

Patients with chronic granulomatous disease may develop oral lesions reflecting susceptibility to infections and inflammation. It is also possible that social and genetic factors may influence the development of this complication. Therefore, oral hygiene must be kept at an optimum level to prevent infections that can be difficult to manage.