Immunological study of different fraction of wheat proteins

Wheat allergy specifically refers to the adverse reaction involving IgE antibody to one or more protein fraction of wheat such as albumin, globulin, gliadin and glutenin [gluten]. The majority of IgE-mediated reactions to wheat involve albumin and globulin fraction while gluten [gliadin and glutenin] also cause allergy [Celiac disease]. Allergic reactions to wheat may be caused by ingestion of wheat containing foods or inhalation of flour [Bakers asthma]. The present study was an effort to explore the antibody response of different proteins present in wheat. ELISA results revealed that the antibody response for albumin varied from 0.92-1.78, whereas, for globulin ranged from 1.39-1.60. Antibody response against glutenin and gliadin ranged from 0.57-1.05 and 0.98-1.95 respectively, among the different varieties of wheat. All the tested wheat varieties showed the significant difference antibody response against the different fractions of protein

BRCA1 status in Pakistani breast cancer patients with moderate family history

To determine BRCA1 status in breast carcinoma patients of Pakistani origin. Observational study. The Oncology Clinics of the Aga Khan University Hospital, Karachi, between May 2005 and December 2009. Fifty three breast cancer patients based on clinical and laboratory diagnosis were recruited for this study. Moderate family history was defined as having a close relative [mother, daughter, sister] diagnosed with breast cancer under 45 years. Peripheral blood samples were collected from each patient in a 5 ml tube containing EDTA as anticoagulant. Subsequent to DNA extraction, mutational analysis of BRCA1 exons 2, 5, 6, 16, 20 and 22 was carried out using single strand conformation polymorphism [SSCP] assay while protein truncation test [PTT] was used to examine mutations in exon 11. All BRCA1 sequence variants were confirmed by DNA sequencing. Twenty-three patients were diagnosed with early onset breast cancer, 30 patients had moderate family history. At the time of diagnosis, the median age of enrolled patients was 39 years [range 24-65 years]. Out of 53 patients, analyzed by SSCP assay, mobility shift was detected in exon 6, 16 and 20 of three patients, whereas one patient was tested positive for mutation in exon 11 by PTT assays. All patients with BRCA1 mutations were further confirmed by DNA sequencing analysis. In exon 16 c.4837A > G was confirmed, which is a common polymorphism reported in several populations including Asians. Moreover, mutations in exon 6 [c.271T > G], exon 20 [c.5231 delG] and exon 11 [c.1123 T > G] were reported first time in the Pakistani population. Several BRCA1 mutations were observed in Pakistani breast cancer patients with moderate family history. Therefore, mutation-based genetic counselling for patients with moderate family history can facilitate management, if one first or second degree relative or early onset disease is apparent

Medullary carcinoma of breast with a novel germline mutation 1123T>G in exon11 of brca1

Breast cancer, the most common malignancy in females, has an estimated 5-10% hereditary predisposition. BRCA1 is a tumor suppressor gene and is known to be responsible for breast cancer and breast-ovarian cancers running in families. In breast caner patients, several mutations in BRCA1 have been reported throughout the gene. This report describes identification of a mutation in BRCA1 gene using protein truncation [PTT] assay in a patient with medullary carcinoma of breast who also had a family history of breast cancer. Following DNA sequencing, the mutation was confirmed as substitution of thymine at position 1123 with guanine of exon 11 [1123 T>G]. This mutation can be added to the pool of known BRCA1 mutations in Pakistani population, which will help in developing a local screening panel of BRCA1 mutations

Sentinel lymph node scintigraphy and radioguided dissection in breast carcinoma: an initial experience at Aga Khan University Hospital

To evaluate the efficacy of SLN biopsy using imaging and gamma probe in breast cancer and to establish this technique at Aga Khan University Hospital. Thirty two patients [mean age 33-76 yrs] with operable breast carcinoma [4 with post-neo adjuvant therapy] with clinically negative axilla were studied. In 28 patients simultaneous axillary dissection was performed. Sentinel lymph nodes [SLN] scintigraphy was performed a day before surgery by injecting Tc-99m labeled nannocolloid sub-dermally in the peri-areolar region in 24 and peri-tumoral in remaining 8. First lymph node [LN] to appear to on the scan was labeled as SLN and marked on the skin. Blue dye was also injected in all patients and blue and hot LN was explored in the axilla using gamma probe. The sentinel LN was identified in 31 patients [96.9% success rate] while in one patient [3.1%] SLN was not visualized on the scan [negative study] and this was a post-neo-adjuvant therapy case. The blue dye successfully localized the sentinel LNs in all 32 cases The gamma probe guided localization was successful in all 31 while in one case with post-neo-adjuvant chemotherapy it failed. In 9 out of 32 [28.1%] cases SLN was positive for metastasis and in 6 out of these 9 [66.6%] the SLN was the only metastatic node. This includes the post-neo-adjuvant case as well. There was no case of skip metastasis, i.e. negative SNL and positive other axillary nodes. In remaining 23 [71.9%] cases SLN was negative for metastasis and in all, axilla was free of disease [NPV of 100%]. Lymphoscintigraphy with gamma probe guided SNL biopsy is safe, simple and highly reliable technique. With blue dye technique it reduces the blindness of the procedure if performed independently but increases the cost. Finally, this can accurately stage the axilla, possibly allowing axillary dissection to be foregone in patients where the SLN is clear

Prednisolone for post torsional azoospermia

A 24 year old medical student showed azoospermia on semenalysis performed after testicular fixation done within 12 hours of torsion. Patient's anxiety demanded treatment. Prednisolone rapidly improved the count to 30 million per ml at four weeks and though Prednisolone was discontinued, the count continued to rise and was 56 million per ml 6 months later

Foreign body aspiration in the paediatric patient

In a sixteen month period, 14 children [age 10m-10y] were admitted for treatment of aspirated foreign bodies. All patients had had various treatment for asthma, bronchitis and pneumonia, the common presenting symptoms were wheezing, cough, fever and dyspnoea. The most common foreign body was betel-nut. The common radiological features were obstructive emphysema but 35% had a normal chest radiograph. The foreign bodies were removed by a ventilating paediatric bronchoscope