A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infant.

Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) is a rare, genetic, congenital limb malformation characterised by unilateral or bilateral fibular aplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. A newborn male born at term via a Caesarean Section presented with malformations consisting of tibial campomelia, unilateral fibular hypoplasia, and oligosyndactyly, a "FATCO variant" case. On radiographic examination, an anterolateral shortened and bowed right lower limb at the distal third of the tibia, a rudimentary right fibula and absence of three rays on right foot were revealed. "FATCO syndrome" although rare may be linked to involvement of different body systems with morbidity and mortality. Proper parent counseling is a key aspect of this syndrome. Timely diagnosis and management with a multidisciplinary approach is essential to avoid lifelong disability, which can be a hurdle in a developing country.

Atypical involvement of central nervous system in classic Hodgkin lymphoma: a case report.

BACKGROUND: Hodgkin lymphoma is a systemic disease that commonly involves the cervical, supraclavicular, and mediastinal lymph nodes. The involvement of central nervous system in Hodgkin lymphoma is extremely rare, and diagnosis is usually established using distinct morphological and immunohistochemical staining on the tissue biopsied. Extranodal presentation of HL is a rare occurrence. It has been evident that prognosis is encouraging in patients with disease that is limited to just central nervous system initially or as relapse, compared with involvement of multiple sites of relapse. CASE PRESENTATION: We herein report a case of a 35-year-old South-East Asian male with relapsed Hodgkin lymphoma. The patient developed a parotid gland lesion, cervical lymphadenopathy with significant weight loss, and intermittent night sweats. Along with spread to the central nervous system, there was a high suspicion of tuberculosis. Upon biopsy of his cervical lymph node, the patient was confirmed to have Hodgkin lymphoma. Immediate treatment began with six cycles of chemotherapy consisting of adriamycin, bleomycin, vinblastine, and dacarbazine. The patient received three cycles of chemotherapy consisting of ifosfamide, carboplatin, and etoposide but then was lost to follow-up. Five years later, the patient suffered a road traffic accident. Upon work-up, a right parietal space-occupying lesion with moderate cerebral edema and midline shift was found on computed tomography of the brain. The patient underwent resection of the space-occupying lesion of brain, with features consistent with classical Hodgkin lymphoma on histopathology examination. It is crucial for such lesions to be investigated meticulously to rule out any secondary disease process. CONCLUSION: Relapsed Hodgkin lymphoma with central nervous system involvement is relatively rare with just over two dozen cases reported to date and is observed infrequently in developing nations. Therefore, space-occupying lesion should always be investigated, and biopsy of such lesions is gold standard to establish diagnosis. With timely appropriate therapy, complete remission can be achieved. However, large-scale studies would be prudent to explore the presentation, survival, and treatment options for patients with Hodgkin lymphoma involving the central nervous system.

Electronic cigarettes use and perception amongst medical students: a cross sectional survey from Sindh, Pakistan.

OBJECTIVE: The manufacturers of electronic cigarettes (e-cigarettes) are actively marketing their product through electronic and social media. Undergraduate medical students are expected to have better knowledge and awareness as they directly interact with patients in their training, The purpose of this study is therefore, to determine knowledge, use and perception regarding e-cigarettes among medical students from Sindh, Pakistan. RESULTS: A cross-sectional study was conducted between 1st July and 30th September 2016 at five different medical colleges situated in the second largest province of Sindh, Pakistan. The data was collected through a structured, self-administered questionnaire. Of the 500 students, the mean age was 21.5 ± 1.7 years and 58% were females. Over (65.6%) students were aware of e-cigarettes, 31 (6.2%) reported having used e-cigarettes, of whom 6 (1.2%) self-reported daily use. Users of conventional tobacco products were significantly more likely to have heard of e-cigarettes (87.6% vs 51.6%, p < 0.001) and having used them (13.9% vs 1.3%, p < 0.001). On multivariable logistic regression analysis we found a strong association of e-cigarette use with consumption of conventional cigarettes [OR: 10.6, 95% CI 3.6-30.8, p < 0.001], use of smokeless tobacco products [OR: 7.9, 95% CI 2.7-23.4, p < 0.001] however a weak association was observed for Shisha use [OR: 3.05, 95% CI 0.9-9.6, p = 0.05].

Comparison of Polymerase Chain Reaction and Immunohistochemistry Assays for Analysing Human Papillomavirus Infection in Oral Squamous Cell Carcinoma.

INTRODUCTION: Polymerase Chain Reaction (PCR) and Immunohistochemistry (IHC) are two well-known techniques used for the diagnoses of genetic diseases, tumours and different pathogens. PCR basically amplify regions of DNA within a single molecule which may have etiologic significance, it is a method for in vitro amplification of specific DNA or RNA sequences, whereas IHC is used to verify tissue constituents (the antigens) with the utilization of specific antibodies that can be visualized through staining. AIM: To compare and analyse PCR and IHC for their sensitivity to detect Human Papillomavirus (HPV) in Oral Squamous Cell Carcinoma (OSCC). MATERIALS AND METHODS: This study was based on samples retrospectively collected from 47 patients with primary OSCC who were diagnosed and treated at The Aga Khan University Hospital, Karachi, Pakistan, during the period of January 2010 to December 2013. Inclusion criteria were complete clinicopathologic data, adequate clinical follow up and availability of sufficient paraffin- embedded tumour material. HPV general and type specific 16 and 18 were investigated by means of PCR. HPV immunoreactivity was further investigated by means of IHC. RESULTS: Among the 47 evaluated patients, 32 (68.1%) were male and 15 (31.9%) were female, PCR detected the presence of HPV in 32 (68.1%) patients while IHC showed no positive test results. p53 was positive in 32 (68.1%) patients and negative in 15 (31.9%). HPV type 16 being most prevalent showing positivity in 27 (57.4%) patients whereas, type 18 was positive in only 1 (2.1%) patient. CONCLUSION: We concluded that PCR is more sensitive and reliable when diagnosing and detecting HPV for OSCC rather than IHC as results from IHC were all negative and insignificant, hence PCR should be the first initial diagnostic test for detecting HPV due to its better sensitivity and successful detection of HPV.