Familial Monosomy 7 Syndrome Associated with Myelodysplasia

Indian Journal of Pediatrics -     

Predictors of early treatment failure following initial therapy for systemic immunoglobulin light-chain amyloidosis

We analysed factors predicting early treatment failure (ETF), after first-line therapy for light-chain amyloidosis (AL). AL amyloidosis patients seen at Mayo Clinic within 90?days of diagnosis, from 2006 to 2015, excluding those who died within 3 months of initial therapy, were analysed retrospectively. ETF was defined as progression requiring treatment change or death within 12 (ETF12) or 24 (ETF24) months of first-line treatment. Non-ETF included those with a follow-up of more than 12 or 24 months who had progression beyond 12 or 24 months. A total of 724 patients met the study criteria; 244 (33.7%) had ETF12 and 388 (53.6%) had ETF24. Patients with ETF12 were older (64.1 vs. 62.2?years) with higher prevalence of cardiac (81 vs. 64.1%) and multi-organ involvement (67.2 vs. 45.4%) and higher proportion of patients with t(11; 14) (58.5 vs. 44.3%) or in higher Mayo 2012 stage (58.5 vs. 41.1%).The median follow-up was 5.4?years from start of initial therapy. In multivariate analysis, presence of t(11; 14) and non-incorporation of autologous transplant in initial therapy are significant predictors of ETF12 (p?=?.01and p?=?.003) and ETF24 (p?=?.0001 and p?=?.005) while Mayo stage is predictive of ETF24 (p?=?.002), but not ETF12.     

Ethnic differences in response to lifestyle intervention for the prevention of type 2 diabetes in adults: A systematic review and meta-analysis

The risk of type 2 diabetes mellitus (T2DM) varies by ethnicity, but ethnic differences in response to diabetes prevention interventions remain unclear. This systematic review and meta-analysis assessed ethnic differences in the effects of lifestyle interventions on T2DM incidence, glycemic outcomes (fasting glucose, 2-h glucose, HbA_1c), anthropometric measures (weight, BMI, waist circumference), and lifestyle behaviors (physical activity, energy intake, energy from fat, fiber intake). MEDLINE, EMBASE, and other databases were searched (to June 15, 2020) for randomized and non-randomized controlled trials on lifestyle interventions (diet and/or physical activity) in adults at risk of T2DM. Ethnicity was categorized into European, South Asian, East and Southeast Asian, Middle Eastern, Latin American, and African groups. Forty-four studies were included in meta-analyses. Overall, lifestyle interventions resulted in significant improvement in T2DM incidence, glycemic outcomes, anthropometric measures, physical activity, and energy intake (all P < 0.01). Significant subgroup differences by ethnicity were found for 2-h glucose, weight, BMI, and waist circumference (all P < 0.05) but not for T2DM incidence, fasting glucose, HbA_1c, and physical activity (all P > 0.05). Few studies in non-European groups reported dietary intake. Lifestyle interventions in different ethnic groups may have similar effects in reducing incidence of T2DM although this needs to be confirmed in further studies.     

Juvenile ossifying fibroma diagnosed on fine needle aspiration cytology: A diagnostic challenge

Preoperative diagnosis of jaw lesions is not always possible on the basis of clinico‐radiological findings alone and needs to be confirmed before attempting any surgical intervention. Fibro‐osseous lesions of the jaw comprise a spectrum of diseases which include cement‐osseous dysplasia, fibrous dysplasia, and ossifying fibroma. The cytomorphological distinction between these individual entities is difficult. We present a case of maxillary fibro‐osseous lesion in an adolescent girl diagnosed and categorized as juvenile ossifying fibroma preoperatively on cytology and confirmed on histopathology. Although aspirates are usually paucicellular in fibro‐osseous lesions, certain cytological features if present in cellular cytosmears can offer further categorization and a definitive diagnosis may be possible in light of clinico‐radiological correlation. Diagn. Cytopathol. 2015;43:75–79. © 2014 Wiley Periodicals, Inc.     

Evaluation of tuberculosis diagnostics in children: 1. Proposed clinical case definitions for classification of intrathoracic tuberculosis disease. Consensus from an expert panel

There is a critical need for improved diagnosis of tuberculosis in children, particularly in young children with intrathoracic disease as this represents the most common type of tuberculosis in children and the greatest diagnostic challenge. There is also a need for standardized clinical case definitions for the evaluation of diagnostics in prospective clinical research studies that include children in whom tuberculosis is suspected but not confirmed by culture of Mycobacterium tuberculosis. A panel representing a wide range of expertise and child tuberculosis research experience aimed to develop standardized clinical research case definitions for intrathoracic tuberculosis in children to enable harmonized evaluation of new tuberculosis diagnostic technologies in pediatric populations. Draft definitions and statements were proposed and circulated widely for feedback. An expert panel then considered each of the proposed definitions and statements relating to clinical definitions. Formal group consensus rules were established and consensus was reached for each statement. The definitions presented in this article are intended for use in clinical research to evaluate diagnostic assays and not for individual patient diagnosis or treatment decisions. A complementary article addresses methodological issues to consider for research of diagnostics in children with suspected tuberculosis.     

Role of FNAC in palpable chest wall lesions in developing country

Palpable chest wall lesions are unusual manifestation of an underlying thoracic pathology and it is difficult to diagnose them with their diverse spectrum ranging from benign to malignant. Considering the exposure of patient to invasive biopsy/excision and the risk of local complications, FNAC is now being increasingly used in the primary assessment of these lesions. Objectives of this study were to report the spectrum of chest wall lesions in the population of a developing country and evaluating the diagnostic role of FNAC. All the patients who presented with palpable cutaneous or subcutaneous chest wall swelling during a period of January 2003 to August 2010 were reviewed retrospectively. May Grunwald Giemsa and Papanicolaou stained aspirates were examined, along with special stains. Seven hundred seventy‐three cases were subjected to chest wall FNAC, of which 726 (93.9%) cases were satisfactory. Age ranged from 1 to 93 years with M:F = 0.92:1. 358 (49.3%) were diagnosed as inflammatory and 368 (50.7%) were neoplastic lesions. Two‐hundred thirty four cases (32.2%) were diagnosed as mycobacterial abscess (likely tuberculous). Of the neoplastic lesions, 153 were malignant with carcinomas being predominant (88.2%). Malignant cases comprised of scar site recurrence in breast carcinoma (73 cases), metastatic carcinomas (62 cases), primary sarcomas (eight cases), hematological neoplasms (six cases), and miscellaneous group (four cases). Overall malignant lesions accounted for 21.1% (153/726) of satisfactory chest wall aspirates. FNAC is very useful and simple investigation for early diagnosis of chest wall abscesses, cutaneous metastases from visceral malignancies, and scar site recurrence in breast carcinoma. Diagn. Cytopathol. 2014;42:653–659. © 2014 Wiley Periodicals, Inc.