International Journal of Medical Advances and Discoveries

ISSN 2756-3812

Table of Contents 2011

Research Article

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 2 (2), pp. 001-009, February, 2011. © International Scholars Journals

Full Length Research Paper

Experiences of two Brazilian families with the birth of premature extremely low-birth-weight infants up to five years of age: Use of narratives

Sylvia Maria Porto Pereira1,2,3,4, Maria Helena Cabral de Almeida Cardoso1

1Fernandes Figueira Institute, Post-Graduate Department, Rio de Janeiro, Brasil.

2Servidores do Estado Hospital, Neonatology Department, Rio de Janeiro, Brasil.

3Federal University of Rio de Janeiro – Martagão Gesteira Pediatrics Institute, Rio de Janeiro, Brasil.

4Estácio de Sá University, Rio de Janeiro, Brasil.

Accepted 10 November, 2010

Abstract

This study was carried out to know about the experiences of two Brazilian families with the birth of extremely premature infants up to five years of age. Participant observation and open interview were used as qualitative methodology. Tertiary teaching hospital, residences, schools and churches families attended. Fathers and mothers of two extremely premature infants assisted to Neonatal Unit, January/December 2001. There were 21 meetings, 14 for observation (30 hours, 90 field diary’s pages); seven for interviews (eight hours, 117 pages transcribed) . The analysis is by semiotic model. This report is presented as two narratives. Four great themes were identified by narratives: healthcare, parents’ stress, communication and support network. Gestational hypertension was a risk factor for extreme prematurity, prolonged neonatal care and families-neonates’ separation; mothers’ assistance at delivery room and first entry in Neonatal Unit had disrespected humanized care; parents’ stress was present at delivery room, first sight of the newborn at Neonatal Unit, at home, as child’s caregivers, with child©s morbidity, fear of death has always been present; communication was both positive and negative; nuclear/extended families, friends, health team and religion were the social support network’s elements. The narrative brought to debate relevant issues.

Keywords: Premature, family, intensive care unit, neonatal, narrative, qualitative research.


Maria Helena Cabral de Almeida Cardoso, Sylvia Maria Porto Pereira

Page: 1 - 9

Case Report

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 2 (1), pp. 001-004, January, 2011. © International Scholars Journals

Case Report

Pyknodysostosis with hearing impairment: A case report

Mohd Ashraf1, Arshad Farooq1, Tasaduq Ahmad1, Mohmmad Himayun1 and Khurshed A Wani2

1Sher-i-Kashmir Institute of Medical Sciences (SKIMS) Medical College, and 2Govt. Medical College (GMC) Srinagar.

Accepted 03 November, 2010

Abstract

Pyknodysostosis is a rare seclerosing bone disease that has autosomal recessive trait. It is characterized by small stature, diffuse osteosclerosis with tendency to transverse fractures, acro-osteolysis of fingers, with flattened and grooved nails. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses and obtuse mandibular gonial angle with relative mandibular prognathism. We report a 9-year-old girl having features of pyknodysostosis with progressive hearing impairment, in the form of otosclerosis.

Keywords: Craniofacial abnormalities, hearing impairment, otosclerosis, pyknodysostosis, seclerosing bone diseases.


Mohmmad Himayun and Khurshed A Wani, Mohd Ashraf, Tasaduq Ahmad, Arshad Farooq

Page: 1 - 4

Review

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 2 (1), pp. 001-010, January, 2011. © International Scholars Journals

Review

Stamping through scientific advances in medicine and genetics

Renad I. Zhdanov1, 2, 3*, Ipek Cetinkaya3 and Svetlana I. Zhdanova4

1Institute of General Pathology and Pathophysiology, Moscow 125315 Russian Federation.

2Alexander von Humboldt-Stuftung, Jean-Paul-Strasse 12, Bonn D-53173 Germany.

3On leave from Department of Genetics and Bioengineering, Yeditepe University, Istanbul 34755 Turkey.

4Chair of Pediatrics, Kazan State Medical University, Kazan, Republic of Tatarstan, 420021 Russian Federation.

Accepted 20 November, 2010

Abstract

There are large numbers of postage stamps related to scientific and medical advances around the world. These stamps are mostly devoted to great scientists and physicians and their discoveries and accomplishments in science. This article discusses some of the most important for the public cases of these achievements based on considering postage stamps worldwide. It is apparent that these postage stamps represent a respond from the society to professional activity of scientists and medical doctors. This being the issue, it can be said that even if the stamps are fading away, it is a fact that they leave a historical commemoration to famous crucial points in science and medicine. The relationships between the postage stamps mentioned in this article and pharmacology, genetics, and bioengineering are discussed. An input of science into world culture and the impact of nations into modern science, medicine and technology are estimated and evaluated via analyzing and comparison of philatelic materials worldwide. Although more than 80 philatelic items worldwide are presented and discussed in the paper, an attention is paid mostly to the contributions from the United Kingdom (27 stamps), the United States of America (24 stamps), the U.S.S.R. and Russia (17 stamps), Germany (7 stamps), and France (5 stamps) . Presentation and considering of the stamps and stamp blocks is organized around a few topics of the most public interest: medicines (insulin, antibiotics, and hormones), DNA & gene medicines, and genetics and bioengineering as well. A special attention is paid in the paper to the Great scientists and physicians worldwide and their discoveries: G. Mendel, F. Banting, A. Fleming, N. Vavilov, P. Julian, J. Watson, F. Crick, B. McClintock, and the first physician-astronaut in space B. Egorov, MD as well. The article is based on the philatelic collection of the authors, one of the largest in scientific and medical philately containing about 4,000 science and medicine related philatelic items: stamps, blocks, envelopes, cancellations. This paper has been prepared in order to inspire young minds on scientific philately, which are commemorations on important impacts in scientific world.

Keywords: Modern medicines, DNA double helix, nations' impact on science and medicine, medical genetics, bioengineering.


Ipek Cetinkaya and Svetlana I. Zhdanova, Renad I. Zhdanov*

Page: 1 - 10

Table of Contents 2010

Case Report

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 1 (1), pp. 001-003, December, 2010. © International Scholars Journals

Case Report

Evaluation of serum magnesium levels in patient suffering from renal lithiasis and role of magnesium supplementation in electrolyte imbalance– a case report and review

Shailja Gupta1*, Sakshi Sodhi1, Vivek Mahajan2 and Yamini3

1Department of Biochemistry, Sri Guru Ram Das Institute of Medical Sciences and Research, Vallah, Amritsar.

2Department of Anesthesia, Geetanjali Medical College, Udaipur,

3Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research, Vallah, Amritsar.

Accepted 07 June, 2010

Abstract

Hypomagnesaemia is common finding in current medical practice mainly in critically ill patients. Magnesium has been directly implicated in hypokalemia, hypocalcaemia and dysrrthymias. We report a known case of renal lithiasis, in a 45 year old female patient, with chief complaint of severe pain in right lumbar region and breathlessness with confirmed electrolyte imbalance. The objective of the present case report was to investigate the incidence of hypomagnesaemia in the critically ill patient and multiple electrolyte imbalance. It was also observed that magnesium (Mg) supplementation corrected the underlying multiple electrolyte disturbances in the patient thus, establishing a positive correlation of magnesium with sodium (Na), potassium (K) and calcium (Ca).

Key words: Hypomagnesaemia, hypokalemia, hypocalcaemia, hyponatremia.


Sakshi Sodhi, Shailja Gupta*, Vivek Mahajan and Yamini

Page: 1 - 3

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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