Cytogenetics in head and neck cancer

Cytogenetics or the study of chromosomes has been an important tool in oncology. It localizes the abnormality on a particular chromosome segment as such but, the molecular analysis on the other hand focuses the exact gene of interest. Hence both are complimentary. Classical cytogenetics in combination with recent molecular techniques has given rise to various molecular cytogenetic analytical techniques such as florescent in-situ hybridization (FISH), spectral karyotyping (SKY) and comparative genomic hybridization (CGH). The role of telomeres and its concerned enzyme telomerase is important in carcinogenesis. This article summarizes the various cytogenetic techniques and presents an overall view of the importance of cytogenetcs in head and neck cancer.     

Laparoscopic common bile duct exploration for extraction of a round worm.

A 35 years old lady presented with fever, biliary colic, mild jaundice, indigestion and flatulence. The upper abdominal ultrasonography revealed cholecystitis with sludge and a round worm in the common bile duct. Laparoscopic cholecystectomy and exploration of the bile duct for the removal of round worm was performed. The post-operative period was uneventful and the patient was discharged fit on the 4th post-operative day.     

Human papillomavirus DNA in urine samples of women with or without cervical cancer and their male partners compared with simultaneously collected cervical/penile smear or biopsy specimens.

Infection of specific types of high-risk human papillomaviruses (HPVs) causes cervical cancer in women. Conventional test for genital HPV infection requires collection of scraped cervical cells or biopsy specimens, which involves invasive procedures. Utility of non-invasive urine sampling for detection of HPV in women and their male sexual partners is controversial. The validation of this urine-based HPV DNA test is of immense value not only in screening large population and children but also for HPV vaccine monitoring in adolescents. We examined the frequency of high risk HPV types 16 and 18 in simultaneously collected urine samples and cervical scrapes or biopsy specimens from women with cervical cancer and their single lifetime male sexual partners in order to validate the utility of urine sampling as a reliable non-invasive method for detection of genital HPV infection. Thirty women with invasive cervical cancer and their husbands along with 30 age-matched normal healthy women including their husbands were recruited for the study. Cervical biopsies/scrapes from women subjects and penile scrapes from their husbands and urine samples from all of them were collected before taking biopsy or scrapes. HPV-L1 consensus primer as well as high-risk HPV (HPV 16 and 18) type-specific oligo-primers were used for PCR detection of HPV DNA. The total frequency of HPV in women with cervical cancer was found to be 83% (25/30) while it was only 67% (20/30) in their male partners but there was virtually no difference in results between urine and scrape or tissue biopsy either in women or their male partners. Although healthy women and their husbands showed similar frequency of HPV infection both in urine and scrape samples, there was a significant difference (p=0.05) in the prevalence of high risk HPV type 16 in women with cervical cancer (70%) and their male partners (30%). Similar was the trend between control women and their male partners. The results also showed a very high prevalence of HPV type 16 among Indian women with cervical cancer while its frequency was significantly low in their single lifetime male partners. The case by case matching of HPV positivity and negativity between urine and cervical/penile scrapes or biopsies obtained from women and their male partners demonstrated that the non-invasive urine sampling can be reliably used for screening genital HPV infection in both men and women.     

Renpenning syndrome in an Indian patient

Renpenning syndrome is one of the well‐characterized causes of X‐linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using whole‐exome sequencing, a hemizygous deletion was identified in PQBP1 that leads to a frameshift and premature termination of translation. The loss of normal curvatures of cervical and upper thoracic spine due to muscular atrophy is a characteristic feature, though it may be age dependent.     

Disseminated histoplasmosis in an immunocompetent individual--a case report

We report a rare case of disseminated histoplasmosis in a immunocompetent young adult person involving bone marrow, liver, spleen and oral cavity. He presented with oral ulcers, weight loss and pancytopenia. His bone marrow aspiration examination revealed Histoplasma capsulatum.     

Agreement between CBNAAT,liquid culture and line probe assay for detection of Mycobacterium tuberculosis and anti-tubercular drug resistance in extrapulmonary samples

PurposeCartridge based nucleic acid amplification test (CBNAAT) has been endorsed by the WHO as the screening test for diagnosing extrapulmonary tuberculosis (EPTB). In the present study we report the agreement between CBNAAT (Xpert MTB/RIF), liquid culture (LC) and line probe assay (LPA) for diagnosis of Mycobacterium tuberculosis and detection of drug resistance among EPTB cases.MethodsThe EP samples were subjected to CBNAAT (Xpert MTB/RIF, Cepheid, USA) and wherever possible, to LC (MGIT 960, Becton Dickinson, USA) followed sequentially by first line and second line-LPA (FL-LPA, SL-LPA, Hain Lifescience, Germany) on the isolates.ResultsTotal 566/4080 (13.9%) EP samples were detected positive for M. tuberculosis on CBNAAT. Aspirates from lymph nodes were most often positive (11/30; 36.6%), followed by pus (240/873; 27.5%) and CSF samples (166/104; 15.8%). The detection of M. tuberculosis was more in adults than children except in tissue biopsy samples. Rifampicin resistance was also higher among adults except CSF in which resistance was more in children. Total 185 of 566 (32.7%) CBNAAT positive and 770 of 3510 (21.9%) CBNAAT negative samples could be cultured of which 110/185 (59.4%) and 33/770 (4.3%) respectively turned positive. FL-LPA and SL-LPA of 143 culture isolates showed that 27 isolates had drug resistance, of which 3 (2.1%) were XDR, 11 (7.7%) were Pre-XDR (FQ) and 13 (9.1%) were MDR. Of these 27 resistant isolates, 12 were negative by CBNAAT and two were mislabeled as Rifampicin sensitive or indeterminate based on the unique RpoB gene mutation patterns on LPA. The positive and negative agreements between LC and CBNAAT for detection of M. tuberculosis were 67.1% and 92.7% respectively and between LPA and CBNAAT for rifampicin resistance detection were 98.9% and 92.9% respectively.ConclusionsFor EPTB, CBNAAT should be accompanied with LC wherever possible irrespective of the CBNAAT result.     

A comparative study of portal vein embolization versus radiation lobectomy with Yttrium-90 micropheres in preparation for liver resection for initially unresectable hepatocellular carcinoma

BackgroundPortal vein embolization before liver resection is considered the therapy of choice for patients with inadequate future liver remnants. The concept of radioembolization with Yttrium-90 to achieve the same goal has limited data.MethodsWe retrospectively compared patients who underwent portal vein embolization and Yttrium-90 lobectomy before resection of hepatocellular carcinoma in patients with chronic liver disease.ResultsSeventy-three patients underwent portal vein embolization and 22 patients underwent Yttrium-90. Forty-seven percent of patients before portal vein embolization required additional procedures for tumor control, and 27% of patients after Yttrium-90 required additional procedure to mainly induce further hypertrophy. Both therapies achieved the goal of future liver remnants >40%, but the degree of hypertrophy was significantly higher in Yttrium-90 patients (63% for Yttrium-90, 36% for portal vein embolization, P < .01). Tumor response was significantly better with Yttrium-90, achieving complete response in 50% of patients. Resectability rate was higher after portal vein embolization (85% for portal vein embolization, 64% for Yttrium-90, P = .03). Tumor progression was the most common reason precluding surgery. Complete tumor control was the reason not to pursue surgery in 18% of patients after Yttrium-90.ConclusionBoth preoperative portal vein embolization and Yttrium-90, increases liver resectability rates by inducing hypertrophy of future liver remnants in patients with hepatocellular carcinoma and chronic liver disease. Yttrium-90 lobectomy achieved better tumor control and provided more time to assess therapy response, optimizing the indication for surgery.     

Non-organ-specific autoantibodies in Indian patients with chronic liver disease

Background

Autoantibody testing is used to diagnose autoimmune hepatitis (AIH), a cause of chronic liver disease (CLD). However, various autoantibodies are often detectable in patients with CLD due to other causes too. Since data on autoantibody prevalence in Indian patients with CLD are limited, we decided to undertake the current study.

Methods

Patients with CLD with a known cause other than AIH and a separate group of patients with CLD in whom no cause could be identified were studied. Indirect immunofluorescence assays were used to detect anti-nuclear antibodies (ANA), anti-smooth muscle antibodies (ASMA) and anti-liver-kidney microsomal antibodies (anti-LKM). Serum dilutions tested were 1:80 for ANA and 1:40 for other autoantibodies.

Results

Of the 175 patients with CLD of a known cause, 69 (39?%) had one or more autoantibodies, including ANA in 35 (20?%) patients and ASMA in 44 (25?%) patients. None had anti-LKM. The prevalence rates of any autoantibody, ANA and ASMA were similar in patients with CLD due to alcohol (34?%, 20?%, and 24?%, respectively), HCV infection (43?%, 20?%, and 26?%) and HBV infection (40?%, 18?%, and 25?%). The most common ANA pattern observed was speckled (29/35 patients), followed by nucleolar (5/35) and homogeneous (1/35). The ASMA titers did not exceed 1:80. The antibody prevalence rates were similar in patients with liver cirrhosis and chronic hepatitis, and in those with different disease severity. Serum IgG levels were similar in patients with and without detectable autoantibodies. Patients with no known cause of CLD (n?=?50) had similar prevalence rates of autoantibodies, ANA or ASMA.

Conclusion

Autoantibodies were detected in a large proportion of patients with CLD, both cryptogenic and with known cause. Detection of autoantibodies in CLD does not necessarily indicate a diagnosis of AIH, and presence of homogenous pattern of ANA may be more relevant. Indiscriminate testing for autoantibodies in patients with CLD, especially those with a known cause, may not be warranted.     

Gold nanoparticles ameliorate acetaminophen induced hepato-renal injury in rats

Valuable effects of gold particles have been reported and used in complementary medicine for decades. The aim of this study was to evaluate the therapeutic efficacy of gold nanoparticles (AuNPs) against acetaminophen (APAP) induced toxicity. Albino rats were administered APAP at a dose of 2 g/kg p.o. once only. After 24 h of APAP intoxication, animals were treated with three different doses of AuNPs (50 μg/kg, 100 μg/kg, 150 μg/kg) orally or silymarin at a dose of 50 mg/kg p.o., once only. Animals of all the groups were sacrificed after 24 h of last treatment. APAP administered group showed a significant rise in the AST, ALT, SALP, LDH, cholesterol, bilirubin, albumin, urea and creatinine in serum which indicated the hepato-renal damage. A significantly enhanced LPO and a depleted level of GSH were observed in APAP intoxicated rats. Declined activities of SOD and Catalase, after acetaminophen exposure indicated oxidative stress in liver and kidney. The activities of ATPase and glucose-6-Phosphatase were significantly inhibited after APAP administration. AuNPs treatment reversed all variables significantly towards normal level and was found nontoxic. Thus it is concluded that gold nanoparticles played a beneficial role in reducing acetaminophen induced toxicity and can be used in the development of drug against hepatic as well as renal diseases, after further preclinical and clinical studies.