Invasive lobular breast cancer (ILC) and lobular carcinoma in situ (LCIS) are characterised by loss of E-cadherin expression. However germline CDH1 mutations are rare in cases of ILC with no family history of hereditary diffuse gastric cancer (HDGC) and have not been described in women with LCIS.
We screened the CDH1 gene in 50 cases of bilateral LCIS/ILC using Sanger sequencing and MLPA.
Sanger sequencing revealed four pathogenic germline mutations, including a novel splicing mutation (c.48+1G>A). The remaining three (c.1465insC, c.1942G>T, c.2398delC) have been previously described. All four cases had bilateral LCIS +/− ILC and no family history of gastric cancer.
CDH1 germline mutations have not been previously described in women with LCIS. We have shown that germline CDH1 mutations are associated with early onset of bilateral LCIS with or without ILC in women without a family history of gastric cancer. CDH1 mutation screening should be considered in women with early onset of bilateral LCIS/ILC with no family history of HDGC.
bilateral; invasive lobular breast cancer; lobular carcinoma in situ; CDH1; E-cadherin; germline mutation
Organophosphate compound (OPC) poisoning is common in the developing countries such as India. The acute and later effects of OPC poisoning on pituitary and target gland hormones is largely unknown.
Materials and Methods:
This prospective study was conducted at Postgraduate Institute of Medical Education and Research between January 2012 and March 2013. Fourteen patients (8 males, age 18-50 years) with acute OPC poisoning were included in the study based on the history and clinical features, documented decreased in plasma cholinesterase activity or presence of the OPC in gastric lavage/blood samples. The hormonal parameters were done at baseline, at the time of discharge and at three months of follow-up.
A total of 14 patients out of 46 with the mean age of 30.1 ± 10.3 years were finally eligible for the study. Hormonal alterations at admission were similar to sick euhormonal syndrome. Overall 7 of them had nine hormonal deficits at three months of follow up, 4 having sub normal basal cortisol level and two each had low testosterone and growth hormone and only one had thyroxine deficiency.
Acute organophosphate poisoning results in endocrine dysfunction akin to sick euhormonal syndrome. However, in a small subset of patients, varying level of hormonal insufficiency may occur either at admission or later. These observations need re-validation in a larger group of patients with specific OPC.
Endocrine dysfunction; organophosphate poisoning; pituitary
Background: Tongue cancer is one of the common cancers in head and neck region. Cervical node metastasis is the strongest poor prognostic factor. Other prognostic factors were also said to be of significance. Our aim was to find out the significant prognostic factors of tumor aggressiveness in Indian perspective.
Material and Methods: Sixty cases of early cancer of oral tongue with clinically non palpable neck nodes were managed by upfront surgery. Surgeries performed for the primary tumor were ‘wide excision’ or ‘hemiglossectomy’ along with neck dissection. Patients were then given post-operative radiotherapy according to standard guidelines. They were analyzed using a detailed proforma. Three patients were lost to follow-up rest all patients were followed.
Results: Recurrence was seen in 11 out of 60 patients (18.3%), in an average follow-up period of about 28 months. Among those who recurred, one patient had both nodal and local recurrence, 2 patients had nodal only (regional) recurrence and rest 8 patients had local recurrence. The prognostic factors that significantly affected the recurrence were endo-phytic disease, depth of invasion, lymphatic invasion, muscle invasion, healthy margin and adjuvant radiotherapy.
Conclusion: The risk factors for recurrence in early lesions of oral tongue are - Cervical nodal metastasis, Lymphatic permeation, Depth of disease - 6 mm or more, poorly differentiated tumor, Endophytic (infiltrative) disease, Young age at presentation and Muscle invasion. In early tongue lesions, that are node negative, selective node dissection (SND) including level 1, 2, 3 and 4, is a viable option for neck to decrease the morbidity of MND.
Carcinomas; Prognosis; Metastasis; Recurrence
In this retrospective study, we describe the anesthetic management and its implications in parturients with chronic kidney disease (CKD; n = 9), who underwent elective caesarean delivery. Nine parturients with CKD of various etiologies, who underwent elective Caesarean delivery, were included in this study. Spinal anest-hesia was administered in all parturients with normal coagulation profile through a 25-gauze spinal needle (Quincke) with 0.5% (H) bupivacaine in L2-3 space and T6 level was achieved. Hemodynamics and side effects such as nausea, vomiting, headache, and backache were record. The mean age was 28.22 ± 4.43 years. The mean levels of serum creatinine and serum potassium were 2.78 ± 1.29 mg/dl and 4.11 ± 0.46 meq/l, respectively. Mean baseline values of systolic blood pressure, diastolic blood pressure, and pulse rate were higher which decreased after spinal anesthesia. However, the incidence of hypotension, which required mephentermine treatment, was 11.1%. One patient had symptoms of nausea and vomiting/dizziness at the time of hypotension, which disappeared after treatment with 5 mg of intravenous mephentermine. Baseline value of PR remained high throughout the operation. Parturients with CKD with normal coagulation profile remained hemodynamically stable under spinal anesthesia with minimal side effects. However, a large number of studies are required to determine the safety of spinal anesthesia in this setting.
Caesarean delivery; chronic kidney disease; pregnancy; spinal anesthesia
Providing transplantation opportunities for patients with incompatible live donors through kidney paired donation (KPD) is an important strategy for easing the crisis in organ availability. KPD is can overcome the barriers when the only living potential donors are deemed unsuitable owing to an incompatibility of blood type, of human leukocyte antigen cross-match, or both. In KPD, the incompatibility problems with two donor recipient pairs can be solved by exchanging donors. In the absence of well-organized deceased donor program, or transplantation with desensitization protocol and ABO incompatible transplantation, living donor KPD promises hope to the growing number of patients suffering from end-stage renal disease in India. We report our first successful three-way KPD transplantation from India. In an era of organ shortage, this approach is relevant to encourage wider participation from KPD donors and transplant centers to prevent commercial transplantation.
Kidney paired donation; living donor; renal transplantation; three-way
Renal transplantation (RTx) has now become an accepted therapeutic modality of choice for elderly ESRD patients. This single-center study was undertaken to evaluate the outcome of RTx in ESRD patients ≥55 years. A total of 103 patients underwent RTx 79 living related living donors [LD], 24 deceased donors [DD]) at our center. Post-transplant immunosuppression consisted of calcineurin inhibitor–based regimen. The mean donor age was 58.3 years in the LD group and 59.5 years in the DD group. Male recipients constituted 92% in LD and 75% in DD group. In living donor renal transplantation, 1- and 5-year patient survival was 93% and 83.3% respectively and death-censored graft survival was 97.3% and 92.5% respectively. There were 12.6% biopsy proven acute rejection (BPAR) episodes and 12.6% patients were lost, mainly due to infections. In deceased donor renal transplantation, 1- and 5-year patient survival was 79.1% and 74.5% respectively and death-censored graft survival was 95.8% and 85.1% respectively. There were 12.5% BPAR episodes and 25% of patients were lost, mainly due to infections. RTx in ESRD (≥55 years) patients has acceptable patient and graft survival if found to have cardiac fitness and therefore should be encouraged.
Deceased donor renal transplantation; end-stage renal disease; live donor renal transplantation; transplantation in elderly
Deceased donors (DDs) with the brain death due to head injury are the major source of organs for transplantation. The incidence of post-head injury disseminated intravascular coagulation (DIC) ranges from 24% to 50%. Many centers do not accept organs from donors with DIC due to increased risk of primary graft non-function and/or high chances of morbidity/mortality. We performed two successful renal transplants from a DD with head injury with DIC and deranged renal function. One of the recipients developed transient thrombocytopenia, but there was no evidence of DIC or delayed graft functions in either of the recipients. Over a follow-up of 1 month, both are doing well with stable graft function and hematological profile. Thus, a carefully selected DD with severe DIC even with deranged renal function is not a contraindication for organ donation if other risk factors for primary non-function are excluded. This approach will also help in overcoming organ shortage.
Deceased donor; disseminated intravascular coagulation; renal transplant
Cardiovascular disease is the leading cause of morbidity and mortality in maintenance hemodialysis (MHD) patients. We evaluated the role of serum catalytic iron (SCI) as a biomarker for coronary artery disease (CAD) in patients on MHD. SCI was measured in 59 stable MHD patients. All patients underwent coronary angiography. Significant CAD was defined as a > 70% narrowing in at least one epicardial coronary artery. Levels of SCI were compared with a group of healthy controls. Significant CAD was detected in 22 (37.3%) patients, with one vessel disease in 14 (63.63%) and multi-vessel disease in eight (36.36%) patients. The MHD patients had elevated levels of SCI (4.70 ± 1.79 μmol/L) compared with normal health survey participants (0.11 ± 0.01 μmol/L) (P < 0.0001). MHD patients who had no CAD had SCI levels of 1.36 ± 0.34 μmol/L compared with those having significant CAD (8.92 ± 4.12 μmol/L) (P < 0.0001). Patients on MHD and diabetes had stronger correlation between SCI and prevalence of CAD compared with non-diabetics. Patients having one vessel disease had SCI of 8.85 ± 4.67 μmol/L versus multi-vessel disease with SCI of 9.05 ± 8.34 μmol/L, P = 0.48. In multivariate analysis, SCI and diabetes mellitus were independently associated with significant CAD. We confirm the high prevalence of significant CAD in MHD patients. Elevated SCI levels are associated with presence of significant coronary disease in such patients. The association of SCI is higher in diabetic versus the non-diabetic subgroup. This is an important potentially modifiable biomarker of CAD in MHD patients.
Coronary artery disease; maintenance hemodialysis; oxidative stress; serum catalytic iron
Blood biochemistry has significant effect on pathophysiology of human body. Recently few studies found the association of biochemical abnormalities in sickle cell patients. Sickle cell disease showed clinical variability where African ancestors have severe phenotype than Indian sicklers. Our aim was to evaluate the biochemicals in sickle cell patients and their effect on severity. Here we present the comparative biochemical levels in sickle cell patients as well as controls. Sickle cell patients diagnosed by HPLC and biochemical analysis done by Beckman-auto analyzer. T test applied for statistical analysis. Result showed the renal abnormality lesser in patients and related biochemical within the normal range and statistically not significant. Electrolytes, hepatic enzymes, alkaline phosphatase and glucose were elevated and statistically significant (P value <0.05). Observation of the study concludes the biochemical abnormality play a significant role in sickle cell patient’s physiopathology and can be used to management of the disease.
Sickle cell anaemia; Biochemical; High performance liquid chromatography
We report a case of an 80-year-old man who presented with a right inguinal hernia that appeared incarcerated. On exploration a sausage shaped mass was found in the sac, which was debulked and histologically shown to be a well differentiated malignant peritoneal mesothelioma. Rare tumours may present as inguinal hernias and palliative debulking may be effective when they present in inguinal hernia sacs.
Inguinal hernia cancer; Malignant peritoneal mesothelioma; Inguinal sac mesothelioma
To analyse the association of high sensitivity C-reactive (hsCRP) protein levels and −717A/G single nucleotide polymorphism of CRP with acute myocardial infarction (AMI) in the Indian population. Study population included 100 MI cases wherein 32 patients had experienced previous MI (MI-Group-1), 68 MI cases were recruited at presentation (MI-Group-2) and equal number of age and gender matched healthy individuals. hsCRP levels were determined by ELISA and genotyping of −717A/G was carried out by polymerase chain reaction-based restriction digestion method. The −717A/G genotypes did not influence hsCRP level and their distribution did not differ between groups. However, in the present study hsCRP demonstrated significant correlation with BMI in controls of both the genders and with triglycerides in females of AMI at presentation who otherwise are with low risk profile. Identifying traditional risk factors associated with inflammation may help in controlling the acute event.
Myocardial infarction; C-reactive protein; Single nucleotide polymorphism; Indian population
Though cardiac involvement is common in acromegaly, overt congestive heart failure is uncommon.
Materials and Methods:
This is retrospective analysis of hospital record between 1996 and 2007. We analyzed records of 150 consecutive patients with acromegaly. We included the patients with acromegaly those who had overt congestive heart failure either at presentation or during the course of illness for the present analysis. The diagnosis of acromegaly and congestive cardiac failure were based on standard criteria.
Out of 150 patients with acromegaly, 6 patients had overt CHF (4.0%), of which 4 presented with the features of CHF and 2 developed during the course of illness. Three patients had hypertension and 1 had diabetes. Baseline echocardiography showed severe biventricular dysfunction and global hypokinesia in all. Angiography showed dilated hypokinetic left ventricle with normal coronaries in 3, it was confirmed at autopsy in 1. Three underwent trans-sphenoidal surgery, 1 received somatostatin analogue as primary treatment modality. Normalization of growth hormone and IGF-1 led to improvement in cardiac function in 1, 1 patient lost to follow up, and 4 died during the course of illness. In 1 patient, autopsy was performed and cardiac specimen revealed normal coronaries, concentric ventricular hypertrophy, and dilatation with myofibrolysis and interfascicular fibrosis.
Prevalence of overt CHF is 4% in present series. Overt CHF carries poor prognosis and hence, this complication should be recognized at earliest, and medical management to normalized cardiac function should be given utmost priority.
Acromegaly; cardiomyopathy; congestive heart failure
A man in his 70s presented with bilateral, painful legs and feeling generally unwell following the seasonal flu vaccination. The patient had a background of B cell lymphoma in partial remission. His current medications included simvastatin. Initial investigations revealed rhabdomyolysis and acute renal failure. He was admitted to critical care for renal replacement treatment. Other causes of rhabdomyolysis were excluded and expert opinion agreed that the most likely cause was the influenza vaccination with the concurrent use of simvastatin. The patient's renal function gradually normalised and after several months the patient has regained full power in his legs.
Carcinoma of the cervix is the second most common cancer in women worldwide, while it is the commonest cancer among Indian women. Awareness regarding cervical cancer and its prevention is quite low amongst Indian women. The Pap test is a simple and cost effective technique for early diagnosis of cervical cancer. It is necessary to make nursing staff aware of cervical cancer, so that they can impart knowledge regarding cervical cancer and its prevention to the general public.
Aims and objectives:
(1) To assess the knowledge level regarding symptoms, risk factors, prevention and screening of cervical carcinoma among nursing staff. (2) To find out the behaviour of respondents regarding prevention and screening of cervical carcinoma.
Materials and methods:
A cross-sectional interview-based survey regarding knowledge levels about cervical carcinoma was conducted among the nursing staff from one of the tertiary health institutes of Ahmedabad, India. A structured questionnaire with multiple choices was used for data collection. Provision for open-ended responses was also made in the questionnaire. Department-wise stratification was carried out, and thereafter 15% of the total nursing staff from all departments were selected randomly so as to include a total of 100 nurses in the current study. Data entry was done in Microsoft Excel. SPSS statistical software was used to generate statistical parameters like proportion, mean, standard deviation, etc. The Z test was used as a test of significance, and a P value of <0.05 was considered as the level of significance.
cervical cancer; knowledge; nursing staff; PAP test
The aim of this study was to describe our experience of imaging following hysteroscopic sterilisation with the Essure (Conceptus Inc., Mountain View, San Carlos, CA) microinsert, and to underline the importance of a carefully performed follow-up hysterosalpingogram (HSG) in the management of these patients.
18 women underwent the procedure and all returned for follow-up HSG. A standard HSG technique was used and views were acquired to establish microinsert position and tubal occlusion.
In 16 of the 18 women, adequate microinsert positioning and bilateral tubal occlusion was present. In one woman, a unilateral microinsert occluded the fallopian tube, whereas the other fallopian tube was ligated with a clip. The final patient underwent two studies; both showed well-positioned microinserts but unilateral free spill from the right fallopian tube. There are no reported pregnancies thus far.
Essure sterilisation coils have a unique appearance when radiographed and are an effective means of permanently occluding the fallopian tubes. HSG is a rapid and safe method of confirming satisfactory placement and tubal occlusion. Non-HSG imaging techniques are suboptimal at detecting patent fallopian tubes and expose patients to the risk of an unwanted and potentially complicated pregnancy.
Background & objectives:
Endemic fluorosis resulting from high fluoride concentration in groundwater is a major public health problem in India. This study was carried out to measure and compare the prevalence of dental fluorosis and dental caries in the population residing in high and normal level of fluoride in their drinking water in Vadodara district, Gujarat, India.
A cross-sectional study was conducted in Vadodara district, six of the 261 villages with high fluoride level and five of 1490 with normal fluoride level in drinking water were selected. The data collection was made by house-to-house visits twice during the study period.
The dental fluorosis prevalence in high fluoride area was 59.31 per cent while in normal fluoride area it was 39.21 per cent. The prevalence of dental caries in high fluoride area was 39.53 per cent and in normal fluoride area was 48.21 per cent with CI 6.16 to 11.18. Dental fluorosis prevalence was more among males as compared to females. Highest prevalence of dental fluorosis was seen in 12-24 yr age group.
Interpretation & conclusions:
The risk of dental fluorosis was higher in the areas showing more fluoride content in drinking water and to a lesser degree of dental caries in the same area. High fluoride content is a risk factor for dental fluorosis and problem of dental fluorosis increased with passage of time suggesting that the fluoride content in the water has perhaps increased over time. Longitudinal studies should be conducted to confirm the findings.
Cross sectional study; dental caries; dental fluorosis; fluoride water; India; prevalence rate
The study compared the sensitivity, specificity, confidence and interpretation time of readers of differing experience in diagnosing acute appendicitis with contrast-enhanced CT using neutral vs positive oral contrast agents.
Contrast-enhanced CT for right lower quadrant or right flank pain was performed in 200 patients with neutral and 200 with positive oral contrast including 199 with proven acute appendicitis and 201 with other diagnoses. Test set disease prevalence was 50%. Two experienced gastrointestinal radiologists, one fellow and two first-year residents blindly assessed all studies for appendicitis (2000 readings) and assigned confidence scores (1=poor to 4=excellent). Receiver operating characteristic (ROC) curves were generated. Total interpretation time was recorded. Each reader's interpretation with the two agents was compared using standard statistical methods.
Average reader sensitivity was found to be 96% (range 91–99%) with positive and 95% (89–98%) with neutral oral contrast; specificity was 96% (92–98%) and 94% (90–97%). For each reader, no statistically significant difference was found between the two agents (sensitivities p-values >0.6; specificities p-values>0.08), in the area under the ROC curve (range 0.95–0.99) or in average interpretation times. In cases without appendicitis, positive oral contrast demonstrated improved appendix identification (average 90% vs 78%) and higher confidence scores for three readers. Average interpretation times showed no statistically significant differences between the agents.
Neutral vs positive oral contrast does not affect the accuracy of contrast-enhanced CT for diagnosing acute appendicitis. Although positive oral contrast might help to identify normal appendices, we continue to use neutral oral contrast given its other potential benefits.
The long QT syndrome (LQTS) is a cause of syncope and sudden death. Jervell and Lange–Nielson syndrome (JLNS) is an uncommon form of LQTS, having autosomal recessive transmission, and is associated with congenital deafness. We report a case of JLNS in a child who presented to us with refractory epilepsy. The cardiac cause of seizures was suspected as the child was hypotensive and pulseless during the episode of seizures. The child was diagnosed as JLNS based on Schwartz diagnostic criteria for LQTS and congenital sensorineural deafness. The child responded well to β-blocker therapy. Antiepileptic drugs were stopped. The screening of family members with ECG revealed a QT interval more than required for diagnosis of LQTS but they were asymptomatic. All asymptomatic family members were also put on metoprolol. All of them showed great improvement with the reduction of the QT interval on ECG. The patient was doing well on immediate follow-up.
Long QT syndrome; Jervell and Lange–Nielsen syndrome; seizures
Obesity is an increasingly prevalent and costly problem faced by the healthcare system. The role of bariatric surgery in managing obesity has also increased with evidence showing a reduction in long-term morbidity and mortality. There are unique challenges faced by the radiology department in providing an imaging service for this population of patients, from technical and staffing requirements through to the interpretation of challenging post-surgical images. We describe these challenges and provide an overview of the most frequently performed procedures, normal post-operative imaging findings and the appearance of common complications.
Pituitary metastasis as a presenting manifestation of silent systemic malignancy is rare. We describe four such cases.
Materials and Methods:
Four patients (0.7%) of malignancy with pituitary metastasis out of 540 patients of sellar mass within a period of 10 years were analyzed for clinical, hormonal and radiological findings.
The age range of these patients was 39-60 years with lag time ranging from 2to 5 months. Pituitary pathology was presenting manifestation in all 4 patients including diabetes insipidus, ophthalmoplegia and variable anterior pituitary hormone deficiency. 2 patients had bronchogenic carcinoma and one each had squamous cell and adenocarcinoma with unknown primary. Diagnosis of pituitary metastasis was confirmed in three on pituitary mass histopathology and in one it was based on rapidly appearing mass in a short time.
Rapidly appearing mass in the sellar region, short lag time,sudden onset of ophthalmoplegia, -symptoms and signs disproportionate to the size of mass, presence of diabetes insipidus and destroyed but normal sized sella should invoke the suspicion of pituitary metastasis.
Non-functioning pituitary adenoma; pituitary metastasis; radiological features
Tizanidine HCl is a centrally acting α-2 adrenergic agonist muscle relaxant with a slightly bitter taste having short half-life of 2.5 h. In the present study effect of co-processed excipient bases in formulation of orodispersible tizanidine HCl tablets by direct compression method was investigated. Co-processed excipient of microcrystalline cellulose with SSL-hydroxypropylcellulose was prepared using spray drier in 1:1, 1:2 and 1:3 ratio. Formulated tablets were evaluated for hardness, friability, in vitro disintegration time and in vitro drug release. Formulation F-3 prepared by addition of co-processed excipient base in ratio of 1:3 showed minimum disintegration time of 9.15±0.04 s and higher amount of drug release of 93.75% at the end of 15 min. Granules obtained by spray drying technique were found to be more spherical which improved its flow property and was supported by scanning electron microscope studies. Thermal studies indicated change in amorphous state, compatibility of drug in formulation was confirmed by fourier transform infrared studies. Analyses of drug release data indicated formulation followed first order kinetics. Inclusion of co-processed excipient base in formulation of orodispersible tablets enhanced disintegration significantly.
Co-processed excipient; enhanced disintegration; orodispersible tablet; spray drying
Stem cell therapy for conditions characterized by myocyte loss in myocardial infarction and heart failure is intuitively appealing. Stem cells from various sources, including heart itself in preclinical and animal studies, have shown the potential to improve the function of ventricular muscle after ischaemic injury. The clinical experience from worldwide studies have indicated the safety profile but with modest benefits. The predominant mechanisms of transplanted cells for improving cardiac function have pointed towards paracrine effects rather than transdifferentiation into cardiomyocytes. Thus, further investigations should be encouraged towards bench side and bedside to resolve various issues for ensuring the correct type and dosing of cells, time, and method of delivery and identify correct mechanism of functional improvement. An interdisciplinary effort at the scientific, clinical, and the government front will bring successful realization of this therapy for healing the heart and may convert what seems now a Pandora's Box into a Pot of Gold.