Diagnostic usefulness of fragments of crushed cells in autoimmune thyroiditis

Fine-needle aspiration cytology has emerged as an important diagnostic tool in cases of autoimmune thyroiditis. However, the patchy nature of this disease and its coexistence with other thyroid pathologies, with only subtle demonstrable cytologic features in many cases can lead to misdiagnosis. Of 313 thyroid aspirates, 62 were diagnosed as autoimmune thyroiditis. Fragments of crushed cells were observed in 51 (82.11%) of autoimmune thyroiditis (P < 0.001). The presence of "crush artifact" that can be easily picked up on low magnification should be used as an important criterion for the diagnosis of thyroiditis. It is particularly helpful in cellular smears from thyroiditis to avoid misdiagnosis of neoplasia.     

Impact of two regimens of vitamin D supplementation on calcium — vitamin D — PTH axis of schoolgirls of Delhi

Objective  

To determine the efficacy of supplementation with oral vitamin D₃ (cholecalciferol) on bone mineral biochemical parameters of school-going girls.     

Bone marrow involvement by metastatic solid tumors

A five year experience with bone marrow aspirates and biopsies positive for metastatic carcinoma is reviewed. Marrow examination in 25 cases detected metastasis. The common primary tumors with marrow metastasis were neuroblastoma, carcinoma breast and prostate. In 56% cases primary site could not be ascertained from bone marrow as metastatic tumor showed undifferentiated morphology. The study demonstrates the usefulness of combining trephine biopsy with aspirate examination for increased detection of bone marrow metastasis.     

Pregnancy outcome in systemic lupus erythematosus: Asia’s largest single centre study

Aim  

To evaluate pregnancy outcome in women with systemic lupus erythematosus (SLE).     

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

Cohen syndrome is a rare, clinically variable autosomal recessive disorder characterized by mental retardation, postnatal microcephaly, facial dysmorphisms, ocular abnormalities and intermittent neutropenia. Mutations in the COH1 gene have been found in patients from different ethnic origins. However, a high percentage of patients have only one or no mutated allele. To investigate whether COH1 copy number changes account for missed mutations, we used multiplex ligation-dependent probe amplification (MLPA) to test a group of 14 patients with Cohen syndrome. This analysis has allowed us to identify multi-exonic deletions in 11 alleles and duplications in 4 alleles. Considering our previous study, COH1 copy number variations represent 42% of total mutated alleles. To our knowledge, COH1 intragenic duplications have never been reported in Cohen syndrome. The three duplications encompassed exons 4–13, 20–30 and 57–60, respectively. Interestingly, four deletions showed the same exon coverage (exons 6–16) with respect to a deletion recently reported in a large Greek consanguineous family. Haplotype analysis suggested a possible founder effect in the Mediterranean basin. The use of MLPA was therefore crucial in identifying mutated alleles undetected by traditional techniques and in defining the extent of the deletions/duplications. Given the high percentage of identified copy number variations, we suggest that this technique could be used as the initial screening method for molecular diagnosis of Cohen syndrome.     

Three-year outcomes of dietary fatty acid modification and house dust mite reduction in the Childhood Asthma Prevention Study

BACKGROUND: Two factors thought to influence the risk of asthma are the promoting effect of sensitization to house dust mites and the preventive effect of increased omega-3 fatty acids. Although house dust mite allergen avoidance has been used as a preventive strategy in several trials, the effect of omega-3 fatty acid supplementation in the primary prevention of asthma and allergic disease is not known. OBJECTIVE: To measure the effects of dietary supplementation with omega-3 fatty acids and house dust mite allergen avoidance in children with a family history of asthma. METHODS: A total of 616 children at high risk of asthma were enrolled antenatally in a randomized controlled trial, and 526 children remained in the trial at age 3 years. The outcomes were symptoms of allergic disease and allergen sensitization. RESULTS: There was a significant 10.0% (95% CI, 3.7-16.4) reduction in the prevalence of cough in atopic children in the active diet group ( P=.003; number needed to treat, 10) but a negligible 1.1% (95% CI, -7.1 to 9.5) reduction cough among nonatopic children. There was a 7.2% (95% CI, 10.11-14.3) reduction in sensitization to house dust mite in the active allergen avoidance group ( P=.05; number needed to treat, 14). No significant differences in wheeze were found with either intervention. CONCLUSION: These results suggest that our interventions, designed to be used in simple public health campaigns, may have a role in preventing the development of allergic sensitization and airways disease in early childhood. This offers the prospect of reducing allergic disease in later life.     

Coding region variant 186H/R in Exon 4 of APOBEC3G among individuals of Western India

The allelic variations in the AIDS restriction genes have been associated with the acquisition of HIV‐1 and its progression. The distribution of antiviral gene variants significantly differs between populations. Therefore, we aimed to evaluate the distribution of variant allele of 186H/R in exon4 of APOBEC3G between HIV infected individuals and healthy controls among western Indian.In the present cross‐sectional study, we enrolled a total of 153 HIV‐infected patients confirmed and 156 unrelated healthy individuals. Polymorphism for 186H/R in exon4 of APOBEC3G gene was genotyped by PCR‐RFLP. With the frequency of 186HR heterozygous genotype of APOBEC3G was found to be 13% in healthy controls and none in HIV infected cases. The frequency of 186HH common genotype of APOBEC3G was observed higher in HIV infected individuals compared with healthy controls (100% vs 91.7%). The variant genotype 186RR in APOBEC3G was not found in both the groups. The frequency of 186R allele of APOBEC3G was found 4.16% in healthy controls and nil in HIV‐infected cases. The frequency of 186H allele of APOBEC3G was found to be higher in HIV‐infected cases compared with healthy controls (100% vs 95.83%). The frequency of 186R allele in exon4 of APOBEC3G was found to be 4.16% in healthy controls. This observation differs from the previous report published from North India stating the absence of 186R allele of APOBEC3G in the North Indian individuals. The variant 186H/R in exon4 of APOBEC3G was neither associated with risk of acquisition of HIV‐1 nor its progression.     

Subtelomeric FISH uncovers trisomy 14q32: Lessons for imprinted regions,cryptic rearrangements and variant acrocentric short arms

The recent development of a set of chromosome‐specific, subtelomeric probes has proved useful in diagnosis and recurrence risk counseling of patients and families with mental retardation and in further characterization of known chromosomal abnormalities. Cases of cryptic, subtelomeric rearrangements may account for up to 7.5% of cases of idiopathic moderate–severe mental retardation. We present the molecular cytogenetic studies of trisomy 14q detected by subtelomeric fluorescence in situ hybridization (FISH). Our patient is a 3‐year‐old girl with growth and developmental delay, myelomeningocele, partial agenesis of the corpus callosum, hypertelorism, tented mouth, simple ears, small mandible, and congenital heart disease (atrial and ventricular septal defects with subaortic conus). G‐banded chromosome analysis was apparently normal. A set of FISH‐based, subtelomeric, region‐specific probes revealed trisomy for 14q in the child. Parental FISH studies established that the mother is a balanced carrier for a half‐cryptic translocation between the distal long arm of chromosome 14 and the short arm of chromosome 22. FISH analysis using two BAC clones that contain the imprinted genes MEG3 and DLK1, which localize to 14q32, established that our patient has two maternal copies of these genes. Because the child does not have features of the maternal UPD 14 syndrome, this case suggests that it is absence of expression of a paternally expressed gene, rather than overexpression of a maternally expressed gene, that is responsible for the maternal UPD 14 phenotype. © 2002 Wiley‐Liss, Inc.     

Diagnostic significance of signet ring cells in fine-needle aspirates of the breast

Fine-needle aspiration (FNA) is a reliable and cost-effective procedure in the evaluation and management of breast lesions. One diagnostic dilemma that may sometimes arise is the finding of signet ring cells. The isolated finding of such cells in aspirate smears may be particularly problematic in cases of low cellularity or those with otherwise benign features. Although it is generally held that such cells are almost exclusively associated with carcinoma (particularly the lobular subtype), their significance in FNA smears has never been systematically evaluated. To establish their diagnostic utility, we evaluated aspirate smears from 150 cases of histologically proven benign (77) and malignant (73) breast lesions for the presence of signet ring cells, defined as those containing a prominent intracytoplasmic vacuole with nuclear displacement. Signet ring cells were identified in 71% of malignant cases (75% of ductal carcinomas and 71% of lobular carcinomas), mostly as single cells or within small, loosely cohesive tissue fragments. Such cells were also present in 6% of histologically proven benign lesions, most commonly within large tissue fragments. Many of these cells were proven to be vacuolated myoepithelial cells, based on histologic correlation and immunostaining results using anti-muscle-specific actin. On the basis of these findings, we conclude that (1) the presence of signet ring cells within small loose tissue fragments or as single cells in FNA smears should prompt close clinical follow-up (including repeat FNA and perhaps surgical biopsy), regardless of smear cellularity, (2) the presence of signet ring cells in cases of adenocarcinoma does not predict a particular tumor subtype, and (3) rare benign breast lesions may contain signet ring cells, particularly within large tissue fragments, and do not, in isolation, warrant surgical biopsy to exclude malignancy. Diagn. Cytopathol. 16:117–121, 1997. © 1997 Wiley-Liss, Inc.     

Instability of immunophenotype in plasma cell myeloma

Little information has been reported describing antigen stability in plasma cell myeloma. In this study, the expression frequency and stability of 2 potential therapeutic targets, CD20 and CD52, along with the frequently aberrantly expressed CD56 antigen, were evaluated by flow cytometric analyses in 56 patients with plasma cell myeloma. Of the 56 patients, 23 (41%) showed immunophenotype change, including CD56 in 6 cases, CD20 in 7 cases, and CD52 in 17 cases. Combined CD56/CD52 change was seen in 3 cases and combined CD20/CD52 in 4 cases. No correlation was found between immunophenotype change and age, sex, stage, plasma cell morphologic features, extent of marrow involvement, time between analyses, type of therapy, or response to therapy. Immunophenotype shift was more common in patients with IgA than in patients with IgG paraprotein. Recognition of lack of stability in immunophenotype may be important, especially in antigen-directed treatment decisions and when specific phenotypes are used to detect residual disease.