International Journal of Medical Advances and Discoveries

ISSN 2756-3812

Table of Contents 2010

Case Report

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 1 (1), pp. 001-005, December, 2010. © International Scholars Journals

Case report

Importance of molecular techniques in diagnosing Williams-Beuren syndrome

Iravathy Goud.K1*, Dayakar.S1, Babu.S.J1, VijayaLakshmi.K1, Peter Miny2, Friedel Wenzel3, Dharmendra Jain4, Vimarsh Raina4

1Molecular Biology and Cytogenetics lab, Apollo Health city, Jubilee Hills, Banjara Hills, Hyderabad-500033.

2Abteilung Medizinische Genetik,Departement Klinisch-Biologische Wissenschaften Universitäts-Kinderspital beider Basel (UKBB) CH-4005.

3Chromosomenlaboratory,The Children's Hospital, Basel, CH-4005.

4Immunology and Molecular Biology, Indraprastha Apollo Hospitals, Sarita Vihar, New Delhi-110044

Accepted 22 August, 2010

Abstract

Williams’s syndrome is a complex syndrome characterized by developmental abnormalities,craniofacial dysmorphic features, and cardiac anomalies. Clinical diagnostic criteria are available for WS; the mainstay for diagnosis is detection of the contiguous gene deletion of the Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin (ELN) gene which can be detected using fluorescent in situ hybridization (FISH) or targeted mutation analysis.A two and half year old child was referred to our Molecular Biology and Cytogenetic lab for cytogenetic analysis which revealed normal male karyotype. As the diagnosis could not be confirmed the sample was further tested for WBS critical region - ELN-locus in 7q11 by FISH analysis. Loss of ELN-locus in 7q11 confirmed the clinical diagnosis of WBS in the child. The parents of the child benefited enormously by learning that the risk of recurrence was < 1% as this microdeletion occurs sporadically (new mutation). The main aim of this study is to emphasize on two aspects: (i) the importance of making use of modern molecular techniques to diagnose such a syndrome and (2) the difficulties faced by the physician to provide appropriate diagnosis and the adequate genetic counseling to such patients due to the lack of such molecular facilities.

Key word: Williams- Beuren Syndrome, cytogenetics, FISH


Peter Miny, Dharmendra Jain and Vimarsh Raina, Babu.S.J , Dayakar.S , Friedel Wenzel, Iravathy Goud.K*, VijayaLakshmi.K

Page: 1 - 5

Case Report

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 1 (1), pp. 001-005, December, 2010. © International Scholars Journals

Case Report

Intracranial tumor manifesting in the 2nd week of pregnancy: case report in a 24year old female

1Erondu Okechukwu Felix, 1Okoro Chinedum Richards, 2Aniemeka Joy Ifeanyi,3 Ugwu Anthony Chukwuka, 4Obi Iwuagwu

1 Department of Clinical Imaging, Image Diagnostics, Port Harcourt,Nigeria

2 Department of Radiology,University of PortHarcourt Teaching Hospital

3Department of Radiography,Nnamdi Azikiwe teaching Hospital, Nnewi,Nigeria.

4Department of Radiology,Wansbeck Gen Hospital, Ashington,UK.

Accepted 06 November, 2010

Abstract

The presence of a brain tumor complicating pregnancy is a relatively rare phenomenon. Though several cases have been recorded, there is scanty data describing such an occurrence in Nigeria and particularly cerebellar glioma. Pregnancy often masks the presence of an intracranial neoplasm, and may increase the risk of mis-diagnosis. This is because symptoms such as headache, vomiting, visual disturbance which are signs of raised intracranial pressure, are often encountered in pregnancy with or without pre-eclampsia. A high index of suspicion on the part of the obstetrician is key to timely diagnosis. Although an enhanced brain CT is able to make the diagnosis readily and facilitate further management, MRI is superior in defining the exact relationships of intracranial S.O.L, but may not be readily available in developing countries as in the present circumstance. Diagnostic imaging such as CT scan performed timely, is extremely useful in demonstrating the size, location and relationship of a possible lesion. Furthermore, because it is more widely available than MRI, it is often an invaluable tool in the initial assessment of normo-tensive pregnant patients presenting with features of raised ICP. Once diagnosis is made, the management can be successfully tailored to suit individual patients’ need. Despite the challenges posed by non-surgical management of glioma during pregnancy, normal delivery and healthy live birth is still possible.

Keywords: Intracranial tumor, glioma, pregnancy, manifestation, appearances


Ugwu Anthony Chukwuka and Obi Iwuagwu, Aniemeka Joy Ifeanyi, koro Chinedum Richards, Erondu Okechukwu Felix

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Case Report

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 1 (1), pp. 001-006, December, 2010. © International Scholars Journals

Case Report

Intramuscular haemangiomas in the new born: a report of 2 cases showing physical and plain film radiographic findings with ultrasonographic correlation.

1Erondu Okechukwu Felix, 1Okoro Chinedum Richards, 2Ugwu Anthony Chukwuka, 3Aniemeka Joy Ifeanyi

1Department of clinical Imaging, Image Diagnostics, Port Harcourt, Nigeria

2Department of Radiography, Nnamdi Azikiwe University, Awka, Nigeria

3Department of Radiology, University of Port Harcourt Teaching Hospital, Port Harcourt

Accepted 17 November, 2010

Abstract

Although intramuscular haemangiomas are relatively common benign soft tissue tumors, the classical appearances on plain film radiographs and ultrasonographic correlation have been scarcely reported, particularly in the new born. Diagnostic criteria on plain radiographs include presence of a lobulated appearance, heterogeneity, speculated areas, calcification and sparing of adjacent bony structures. Color Doppler ultrasound findings include lobulation, serpentine or tubular echo-free spaces, positive Doppler signals (peak arterial Doppler shift exceeding 2 KHz and evidence of vascularity. Whereas MRI and CT provide excellent and more reliable diagnostic information, plain film radiography and Doppler ultrasound, jointly provide an atraumatic, easy, cheap and available means of diagnosis with a reasonable degree of accuracy. Furthermore, since ultrasound can be performed on a first clinic visit, the success can be reassuring to the family, and obviate the need for more expensive cross-sectional imaging or biopsy requiring anaesthesia, both of which may be difficult when dealing with a newborn. We report 2 cases involving 2 and 4 month old female babies with intramuscular haemangioma of the lateral abdominis and upper extremity respectively.

Keywords. Intramuscular, haemangioma, newborn, plain film, ultrasonographic, Doppler.

Ugwu Anthony Chukwuka, Erondu Okechukwu Felix, Okoro Chinedum Richards, Aniemeka Joy Ifeanyi

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Research Article

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 1 (1), pp. 001-005, December, 2010. © International Scholars Journals

Full Length Research paper

Effects of high doses of Gelsemium sempervirens L. on GABA receptor and on the cellular and humoral immunity in mice

Hassan Rammal*, Rachid Soulimani

Neurotoxicologie Alimentaire et Bioactivié, UR AFPA, Université Paul Verlaine de Metz-INPL-INRA, BP 4102, 57040 Metz, France

Accepted 15 October, 2010

Abstract

In this study, our objective was first to evaluate the anxiolytic-like effect of the acute intraperitoneally administration of high doses (9 CH, 15 CH and 30 CH) of Gelsemium sempervirens L. in mouse model of anxiety, the light/dark choice test. Secondly, to evaluate the effect of the acute intraperitoneally administration of these same doses on the cellular and humoral immunity in mice with contrasting level of anxiety evaluated also in the light/dark choice test. Our results showed that all doses of G. sempervirens, more particularly the 30 CH, presented a significant anxiolytic-like effect comparable to that obtained by the well known anxiolytic diazepam. On the other hand, flumazenil (a benzodiazepine receptor antagonist) significantly blocked the effects induced by all doses of the homeopathic drug G. Sempervirens which also exerted an important effect on the cellular (granulocytes, monocytes, total lymphocytes, TCD4+, TCD8+ and NK cells) and humoral (Ig A, E and G) immunity.

Key words: Gelsemium sempervirens, anxiolytic-like, cellular and humoral immunity, light/dark choice test, diazepam, flumazenil.

Rachid Soulimani, Hassan Rammal*

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Research Article

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 1 (1), pp. 001-006, December, 2010. © International Scholars Journals

Full Length Research paper

Clinical and molecular genetic findings in a Friedreich’s Ataxia Tunisian family

Yosr Bouhlal1, Ghada El Euch-Fayeche1, Fayçal Hentati1, Rim Amouri1

Laboratoire de Neurobiologie Moléculaire et de Neuropathologie, Institut National de Neurologie, 1007 la Rabta Tunis – Tunisia

Accepted 15 November, 2010

Abstract

The most common mutation in Friedreich’s ataxia (FA) is an expanded GAA trinucleotide repeat in the first intron of the FXN (Frataxin) gene. A clear correlation between the size of the expanded alleles and phenotype severity was found as the major determining factor. The objective of this study was to report clinical and molecular data of 10 patients homozygous for pathological FXN GAA expansions. Clinical evaluation was preformed for all the patients. GAA expansions were detected by Tripled Primed PCR (TP-PCR) and GAA allele size was estimated by Long Range PCR (XL-PCR). Clinical features were variable within the same family with no correlation between age at onset, worsening score or tendon reflexes status. All patients were homozygous for the pathological GAA expansions. No obvious relationship was found between the different clinical features and size of GAA repeats. In conclusion, factor controlling phenotypic expression in FA may be related to other factors than FXN GAA expansions.

Key Words: Friedreich’s ataxia, GAA expansion, intrafamilial variability.


Rim Amouri, Fayçal Hentati, Ghada El Euch-Fayeche, Yosr Bouhlal

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Research Article

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 1 (1), pp. 001-009, December, 2010. © International Scholars Journals

Full Length Research paper

A tumor selective chemotherapy. Can this be managed by an algorithm based on the non-Markovian population dynamics?

Dmitry A. Kuznetsov1,2, Sergey A. Roumiantsev3,4, Majid Fallahi 3, Nima Amirshahi1, Andrey V. Makarov2, Karina S. Kardashova5

1N.N.Semenov Institute for Chemical Physics, Russian Academy of Sciences, Kosygin St.4, Moscow 119991, Russia 2Department of Medicinal Nanobiotechnologies, N.I.Pirogov Russian State Medical University, Ostrovityanov St.1, Moscow 117997, Russia

3Department of Molecular and Experimental Hematology, Oncology and Immunology, Federal Research Center of Pediatric Hematology, Oncology and Immunology, Leninsky Prospect 117, Moscow 117997, Russia

4Department of Clinical Hematology, N.I.Pirogov Russian State Medical University, Ostrovityanov St.1, Moscow 117997, Russia

5Department of Fundamental and Applied Neurobiology, V.P.Serbsky Institute for Social and Forensic Psychiatry, Kropotkinsky Pereulok, 23, Moscow 119992, Russia

Accepted 15 October, 2010

Abstract

A non-Markovian theory of population dynamics is to simulate the anti-cancer drug distribution between malignant and the hosting normal cell pools. The model takes into account both the cell life span and the proliferation rate differences. This new simulation approach looks promising for its potential to optimize a chemotherapeutic strategy by choosing the scheme with a higher degree of the drug-tumor selectivity.The pre-test designed simulation mode fits nicely the experimental data on Porphylleren-MC16 (PMC16) pharmacokinetics patterns including the allometric plots revealed for this new medicinal porphyrined-fullerene nanoparticle possessing some anti-cancer potential and intervening into the oxygen-independent ATP production mechanisms.

Key words: chemotherapy, population dynamics, drug-tumor selectivity.

Dmitry A. Kuznetsov, Sergey A. Roumiantsev, Nima Amirshahi, Andrey V. Makarov and Karina S. Kardashova, Majid Fallahi

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