Clinicopathological Profile of Myelomatous Pleural Effusion: Single-center Real-world Experience and Review of Literature

Background

Multiple myeloma (MM) is a hematologic malignancy of plasma cell origin. MM primarily affects bone marrow, but extramedullary sites can also be involved. Myelomatous pleural effusion (MPE) is an atypical and rare complication of MM. We aimed to systematically study the incidence and clinicopathologic profile of patients with MPE in a real-world setting.

Biomarkers to predict asthma in wheezing preschool children

Wheezing in preschool children is a very common symptom. An adequate prediction of asthma in these children is difficult and cannot be reliably assessed with conventional clinical tools. The study of potential predictive biomarkers in various media, ranging from invasive sampling (e.g. bronchoscopy) to non‐invasive sampling (lung function testing and exhaled breath analysis), was comprehensively reviewed. The evolution in biomarker discovery has resulted in an ‘omics’ approach, in which hundreds of biomarkers in the field of genomics, proteomics, metabolomics, and ‘breath‐omics’ can be simultaneously studied. First, results on gene expression and exhaled breath profiles in predicting an early asthma diagnosis are promising. However, many hurdles need to be overcome before clinical implementation is possible. To reliably predict asthma in a wheezing child, probably a holistic approach is needed, combining clinical information with blood sampling, lung function tests, and potentially exhaled breath analysis. The further development of predictive, non‐invasive biomarkers may eventually improve an early asthma diagnosis in wheezing preschool children and assist clinicians in early treatment decision‐making.     

Tuberculosis of the hip in children: A retrospective analysis of 27 patients

Background:

We retrospectively evaluated the pretreatment radiological presentation and the clinicoradiological outcome at the completion of 1 year chemotherapy in osteoarticular tuberculosis of hip in children to prognosticate correlation between them.

Materials and Methods:

We retrospectively analyzed the clinical and plain radiographic findings in 27 patients with an age of 12 years or younger in whom hip tuberculosis was diagnosed and treated between 2006 and 2010. The diagnosis was based on histopathology in 14 and clinicoradiological basis in 13 patients. The pre and post treatment plain radiographs were evaluated according to Shanmugasundaram radiological classification and our observations regarding unclassified cases which were not fit in this classification were suggested. The functional outcome at the completion of chemotherapy was assessed using modified Moon''s criteria.

Results:

The male female ratio was 11:16. The left hip was involved more frequently than the right (17:10). The average age was 7.37 years (range, 2-12 years). In the pretreatment radiographs, 9 hips were normal, 6 traveling, 4 dislocating, 1 protrusio acetabuli, 3 atrophic and 4 unclassified types (3 triradiate; 1 pseudarthrosis coxae). There were no Perthes and mortar pestle at the initial presentation. Posttreatment, the types changed to 9 normal, 3 Perthes, 1 protrusio acetabuli, 1 atrophic, 4 mortar pestle and 9 unclassified types (3 triradiate, 3 pseudarthrosis coxae and 3 ankylosed). There were 37% excellent, 18.5% good, 26% fair and 18.5% poor results. The prognosis was best with initial “triradiate” and normal types and worst with posttreatment atrophic and “ankylosed” types.

Conclusions:

The Shanmugasundaram radiological types accurately predict prognosis only in normal types and “triradiate” pattern. The functional outcome is independent of radiological morphology of the hip in smaller children.     

Bisphosphonate Related Osteonecrosis of the Jaw: An Update

Objectives

The aim of this paper is to summarize different diagnostic criteria as well as probable aetiopathogenesis of bisphosphonates related osteonecrosis of the jaw.

Materials and Methods

The electronic search of peer-reviewed journals were performed in MEDLINE (PubMed) database in order to find the relevant articles on bisphosphonates related osteonecrosis of the jaw (BP-related ONJ). The search was restricted to English language articles, published from January 2002 to May 2013. On the basis of these articles, probable aetiopathogenesis and different diagnostic criteria of BP-related ONJ were summarized.

Results

BP-related ONJ is related to the development of avascular necrosis or dead jaw bones. In recent literature many given hypotheses show the aetiopathogenesis and diagnosis of BP-related ONJ which are interlinked and have multifactorial nature. Their diagnosis revolves around four main diagnostic criteria that differentiate it from other conditions which can delay bone healing.

Conclusions

Factors like potency of bisphosphonates, biology of jaw bone, antiangiogenic property of bisphosphonates and soft tissue toxicity in combination with present infection, other drugs, pre-existing pathologies, compromised immune response and dentoalveolar trauma may lead to development of BP-related ONJ.     

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein–Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. The variants were detected by exome sequencing using a panel for intellectual disability in all but one individual, in whom Sanger sequencing was performed upon clinical recognition of the entity. The main characteristics of the patients are developmental delay (90%), autistic behavior (65%), short stature (42%), and microcephaly (43%). Medical problems include feeding problems (75%), vision (50%), and hearing (54%) impairments, recurrent upper airway infections (42%), and epilepsy (21%). Major malformations are less common except for cryptorchidism (46% of males), and cerebral anomalies (70%). Individuals with variants between bp 5,595 and 5,614 of CREBBP show a specific phenotype (ptosis, telecanthi, short and upslanted palpebral fissures, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum). 3D face shape demonstrated resemblance to individuals with a duplication of 16p13.3 (the region that includes CREBBP), possibly indicating a gain of function. The other affected individuals show a less specific phenotype. We conclude that there is now more firm evidence that variants in these specific regions of CREBBP and EP300 result in a phenotype that differs from RSTS, and that this phenotype may be heterogeneous.