bluuebunny/crossref_metadata_2025 huggingface dataset:
Clinical and Electrophysiological Characteristics of Vincristine Induced Peripheral Neuropathy in Children
Authors: Kava Maina , Walsh Peter , SrinivasJois Ravisha , Cole Catherine , Lewis Barry , Nagarajan Lakshmi
Published: December 2019

ABSTRACTBackground: Vincristine is a chemotherapeutic agent frequently used in the treatment of childhood cancer.  Peripheral neuropathy is an important side effect of Vincristine.  We assessed the incidence, severity and type of peripheral neuropathy in children on Vincristine using clinical parameters and nerve conduction studies.  Methods: Children with cancer treated with Vincristine were enrolled.  Symptoms and signs of motor, sensory and autonomic peripheral neuropathy at baseline and at 3, 6 and 12 month follow up were documented. A modified total neuropathy score grading was undertaken. Nerve conduction studies (NCS) were undertaken and vitamin E levels measured at the time of these assessments.Results: 28 patients were enrolled over 12 months. 93% had evidence of neuropathy clinically and/or electrophysiologically. Weakness, pain and constipation were the most common symptoms and the most common sign was loss of ankle reflexes.  The peripheral neuropathy was mild in most cases. Plasma levels of vitamin E remained in the normal range, however they dropped significantly from the baseline value.Conclusions: Peripheral neuropathy assessed clinically and electrophysiologically, occurs in the majority of children on Vincristine treatment. The neuropathy is sensory-motor and generally mild.  There was a statistically significant drop in average vitamin E levels during treatment.  Keywords: Vincristine, peripheral neuropathy, vitamin E
The Quest for Neuroprotection for Injuries in the Developing Brain
Authors: Ismail Fatima Yousif , Fatemi Ali , Johnston Michael
Published: December 2019

The advancement in medical knowledge could have not been possible without interlocking and reinforcing the bedside-lab continuum. In the field of pediatric neurology, one of the best illustrative examples is our quest for finding neuroprotective therapies in the setting of neonatal hypoxic-ischemic encephalopathy. In this review, we discuss the careful clinical observations driven from the bedside dating back to the work of Frank Ford. We trace the relentless efforts to emulate the pathogenesis in animal models to testing potential therapies in clinical trials that made the transfer of this knowledge back to the bedside possible in order to save and improve the quality of life for hundred of thousands of newborns who suffered hypoxic ischemic insult.
Status Epilepticus due to Baclofen Intoxication
Authors: Bahreini Maryam
Published: December 2019

Background. Baclofen is a muscle relaxant agent that in toxic doses exhibits symptoms such as depressed mental status, hypotonia, hyporeflexia, and respiratory depression. Seizure is a less common presentation of Baclofen toxicity, especially in pediatric patients. Case Description. The patient was a 4 year-old boy with no previous neurologic disorder who experienced status epilepticus after ingestion of high dose of Baclofen orally. He was treated conservatively and after 8 hours, he became awake in good condition without any abnormal finding in imaging or laboratory tests. Discussion. This case describes some rare clinical presentations of Baclofen toxicity that were seizure and bradycardia in an otherwise-normal pediatric patient which could be managed conservatively.
Three Siblings with Progressive Encephalopathy and Destructive White Matter Lesions
Authors: Franckx Helen , Stouffs Katriens , Vanderhasselt Tim , Seneca Sara , Gheldof Alexander , De Meirleir Linda
Published: December 2019

Intellectual disability is an important health issue, with a prevalence estimated at 1%. Autosomal genes are increasingly identified as an important cause, although still few of them are known. Most cases are of recessive origin and are found in large consanguineous families in the Middle East.  Mutations in the TRAPPC9 gene have been reported in different families and are associated with a nonsyndromic form of intellectual disability, although phenotypic abnormalities such as a specific facial appearance, obesity, hypotonia and consistent brain abnormalities were linked to these mutations. Here, we describe three siblings of consanguineous Algerian parents with a homozygous c.1708C>T, p. Arg570* mutation in the TRAPPC9 gene. Initially a relatively normal development was seen until the age of 12-18 months, with from then on a progressive degradation of their mental and motor state and the presence of convulsions in two of them. This, in combination with progressive white matter lesions seen on repetitive magnetic resonance imaging, suggests that this TRAPPC9 mutation should not only be considered as a form of intellectual disability, but also as a neurodegenerative disease.
Lyme Disease or Multiple Sclerosis? Two cases with overlapping features.
Authors: Kotulska-Jóźwiak Katarzyna , Pacheva Iliyana , Patrova Anna , Jurkiewicz Elżbieta Jurkiewicz , Ivanov Ivan , Kuczyński Dariusz , Geneva Ina
Published: December 2019

Background,  The etiology of multiple sclerosis is unclear and infectious agents have been considered. Borrelia infections can cause an intrathecal inflammatory response with accompanying cerebral and spinal imaging findings.

Cases. Two children with acute or subacute initial neurological presentation, subsequent relapsing  course, and MR imaging features suggestive of multiple sclerosis are presented. A history of tick bite or dramatic response to antibiotic treatment supported Lyme disease in the beginning, but requirement of disaese-modifying treatment later in the course supported multiple sclerosis.

Results. These cases carrying features supportive of both multiple sclerosis and Lyme disease caused clinical dilemma and were treated for both disorders. Borrelia-specific IgG index testing before any treatment could have prevented the difficulty in differential diagnosis.

Conclusions. Clinical, imaging and CSF findings of multiple sclerosis and acute or chronic progressive borrelia encephalomyelitis may overlap and testing for Borrelia-specific intrathecal antibody synthesis should not be omitted in endemic areas.
Valproate-induced reversible atrophy and cognitive decline: a case
Authors: Innes Emily Amy , Johnson Alexandra M
Published: December 2019

Background: Valproate (VPA) has been previously described to cause reversible cerebral atrophy and cognitive decline, but few cases are reported and neuropsychological data is lacking. We report a case of VPA induced encephalopathy in an 11-year-old girl with temporal lobe epilepsy, presenting with impaired cognition and sedation combined with cerebral atrophy.
Methods: Cognitive capacity was assessed using Wechsler Intelligence Scales for Children IV (WISC), non-standardised word lists and visual reproduction. Brain magnetic resonance imaging (MRI) was performed prior to, during and post VPA therapy.
Results: Our patient demonstrated average full-scale intelligence quotient, verbal comprehension, perceptual reasoning and working memory. There was a marked discrepancy in processing speed, which ranked low average (score – 80; 9th percentile). Difficulties with mental abstraction and manipulation were noted. Brain MRI (3T) demonstrated mild generalised parenchymal atrophy. Cessation of VPA resulted in dramatic improvement in clinical symptoms (1 month after cessation) and normalisation of brain MRI (11 months after cessation). Progress neuropsychological testing 13 months after cessation showed marked improvements in processing speed. 
Conclusion: This case provides an important reminder of this rare but importantly reversible syndrome with new information supporting the neuropsychological changes involved.
A clinician's approach to brain malformations
Authors: Jansen Anna C.
Published: December 2019

Malformations of cortical development (MCD) constitute a group of brain disorders which are mainly genetic in origin. MCD form an important cause of cerebral palsy, intellectual disability and refractory epilepsy. Despite considerable progress which has been facilitated by advances in the fields of neuroimaging and genetics, the high degree of phenotypic and genotypic heterogeneity associated with MCD continues to hamper etiological diagnosis and cousneling of numerous patients and families.
The first section of this manuscript is a plea for detailed clinical phenotyping in MCD and reviews the differential diagnosis and clinical work-up based on six clinical case reports. The second part provides a review of personal highlights in the field of MCD-research, and ends with an outlook to the joint efforts of international and interdisciplinary collaborations, which will hopefully result in better care for patients with MCD and their families.
JICNA in 2018
Authors: Newton Charles , Hameed Biju A
Published: December 2019

2018 is the fourth year of the Journal of the International Child Neurology Association (JICNA), and continues to publish papers which are open access, without publication fees. JICNA was set up to: i) promote child neurology throughout the world, in particular encourage papers from low and middle income countries; ii) provide peer review scientifically sound papers on child neurology; iii) provide open access, so that papers can be accessed from anywhere free of charge in the world. In order to achieve these goals we ask members of ICNA contribute to making this a rigorous and vibrant journal, by submitting papers (particularly research papers), reviewing papers in a timely manner and if they have the time and energy put themselves forward as a section editor.

There remain significant challenges in reviewing papers in timely manner and soliciting research based papers. Some reviewers are excellent, reviewing the papers quickly and thoroughly. In particular we would like to commend Professors Lieven Lagae and Jo Wilmshurst, who have reviewed more than four papers in a timely manner. We would also like to thank the following people who have reviewed papers since the start of the journal: Amina Abubakar, Banu Anlar, Harry Chugani, Paolo Curatolo, Russell Dale, Marilisa Guerreiro, Samson Gwer, Richard Idro, Symon Kariuki, Manju Kurian, Ming Lim, Lokesh Lingappa, Andrew Lux, Linda de Meirleir, Lakshmi Nagarajan, Robert Ouvrier, Raili Riikonen, Arushi Saini, Michael Shevell, Pratibha Singhi, Takao Takahashi, Ingrid Tein, Ruth Williams.

We are still looking for section editors for the journal, who show commitment to the journal. We have suggested the following criteria: i) contribute at least two papers (one research and one review); ii) review at least two papers within 2 weeks; iii) be prepared to help people from low resource areas to analyse and write up their research; and iv) have acknowledged expertise in the area of section (reference from another person in the field). This does represent considerable commitment in terms of time and energy. Please contact us if you would like to be and can commit to be a section editor.

Papers in JICNA can be accessed through the JICNA web site, and through CrossRef, Google Scholar and are distributed under the terms of the Creative Commons Attribution License. In 2018 we hope that JICNA will be recognised by other free search engines.
Development of a Duchenne Muscular Dystrophy registry for children in South Africa to optimize care
Authors: Jalloh Alhaji Alusine , Mathiassen Wendy , Wessels Tina-Marié , Ndondo Alvin , Wilmshurst Jo M
Published: December 2019

Background

Duchenne Muscular Dystrophy (DMD) is the most prevalent and lethal of the inherited dystrophies.  Globally, the incidence is reported at 1 in 3500 live male births. There is currently no cure for the disease. With the possibility of gene therapy becoming available, patients who would qualify for such treatment need to be identified. Further, understanding disease expression in a population is essential to focus targeted interventions, such as corticosteroids, to ensure they are safe and effective in the local setting. By maintaining a DMD specific disease registry this information can be attained.

Objective: This report describes the concept and design of the first South African DMD disease registry using Research Electronic Data Capture (REDCap) 

Methods: The registry was developed using REDCap’s web-based online design, accessed through the Clinical Research Centre (CRC) in the Faculty of Health Sciences at the University of Cape Town.  Electronic case report forms were created from these clinical data using REDCap and for specific variables serial entries were possible relating to disease progression. International data standards were adopted as proposed by TREAT-NMD, a global network of registries on DMD to ensure our data is compatible with this and other international registries.

Results: Retrospective data entry combined with dynamic prospective recording of data was utilized in this project. Building on an existing database, 100 confirmed DMD boys are currently eligible for inclusion into the registry.

 As our registry is an on-going study, sequential analysis of accumulated data will be done going forward to review trends on our patients with DMD.

 

Conclusions: This report describes the concept and design of a DMD registry and the steps followed to its establishment with REDCap. The focus is to consolidate clinical and genetic information on South African patients with DMD, commencing with the local centre’s patient cohort but rolling out access to other South African centres to create a national resource, which is internationally relevant.  Ideally this template could be duplicated in the conceptualisation of disease registries for other key conditions.
The association between human herpes viruses and acute symptomatic seizures in Kenyan children
Authors: Kariuki Symon M , Schubart Christian , Newton Charles RJC
Published: December 2019

Background

In malaria endemic areas, where up to 70% of children have peripheral parasitaemia, it is unclear why some children develop seizures. Human herpes viruses are common causes of febrile seizures. We investigated the hypothesis that seizures in children admitted to hospital are caused by concomitant human herpes virus infections.

Methods

We examined the presence of parasitaemia in plasma and viruses in cerebrospinal fluid (CSF) of 100 children with acute symptomatic seizures (84% with complex acute symptomatic seizures (focal, repetitive or prolonged)) and in 45 children without seizures using polymerase chain reaction. The analysis compared the distribution of human herpes virus between children with acute symptomatic seizures and those without these seizures by computing odds ratios using a logistic regression accounted for potential confounders.

Results

Human herpes viruses 6 & 7 were found in the CSF of 22% of children with acute symptomatic seizures and in 24% of those without seizures, and overall, there was no association with acute symptomatic seizures ((adjusted odds ratio (OR)=1.48 (95%CI, 0.54-4.05), p=0.448) nor complex acute symptomatic seizures (OR=2.34 (95%CI, 0.92-5.97), p=0.075). Human herpes virus 7 was significantly associated with complex acute symptomatic seizures (OR=8.80 (95%CI, 1.20-64.84), p=0.033), while herpes virus 6 was not (OR=1.71 (95%CI, 0.55-5.30), p=0.351). The logistic regression model with significant association for human herpes virus 7 and complex acute symptomatic seizures accounted for falciparum malaria, malnutrition and CSF protein levels, whose inclusion effect modified the OR of a baseline model by 81%.

Conclusions

Human herpes virus 7 but not 6 is associated with common complex acute symptomatic seizures in a malaria endemic area in Kenya. Viruses should be screened in children admitted with acute symptomatic seizures.
The use of the ketogenic diet in the treatment of epileptic encephalopathies
Authors: Caraballo Roberto
Published: December 2019

Epileptic encephalopathies(EE) are severe conditions characterized by paroxysmal activity on the electroencephalogram (EEG) that is often aggressive, seizures that are commonly multi-form and intractable, and severe cognitive and behavioral disturbances that present or worsen after the onset of epilepsy. The ketogenic diet (KD) has been shown to be effective in the treatment of refractory epileptic encephalopathies, and has been suggested as an early treatment option in very young children.

Although the experience is often anecdotal and mostly consists of case reports and case series, the aim of this study was to present our own experience and an overview of the current literature on the diet in patients with EE.

Some encephalopathies, such as epilepsy with myoclonic and atonic seizures, West syndrome, Dravet syndrome, or Lennox-Gastaut syndrome, are well recognized and known to have a good response to the ketogenic diet, while others are more rare or only recently identified, such as epilepsy with focal migrating seizures in infancy, febrile infection-related epilepsy syndrome, or myclonic status in non-progressive encephalopathy, about which little is known and the KD is only tried in sporadic cases.

EE are typically refractory to the antiepileptic drugs and the KD  should be considered earlier in the therapeutic scheme of these severe epileptic syndromes. The KD including the oral formula may be considered in all pediatric patients with EE even in infancy.
Optic neuritis associated with chronic inflammatory demyelinating polyneuropathy in a child - a case report
Authors: Griffith Nigel Colin , Munot Pinki , Pitt Matthew , Prise Katrina , Thompson Dorothy A , Bowman Richard
Published: December 2019

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disorder predominantly affecting the peripheral nervous system (PNS), characterised by muscle weakness and sensory disruption which may involve all four limbs[1]. CIDP affecting children is uncommon, with a large scale review in 2013 noting 143 documented cases described in the literature [2]. Central nervous system involvement has previously been described; however, optic neuropathy is an extremely rare manifestation of CIDP, with only a small number of cases previously reported (both unilateral and bilateral) in adult patients[3-5]. This report details a child who developed optic neuropathy in association with CIDP.
Cannabis and related products in the treatment of epilepsy
Authors: Cross J Helen
Published: December 2019

There has been much recent heightened interest in the possible use of cannabinoid products in the treatment of complex epilepsies. Although systematic studies have now been performed and reported showing benefit of cannabidiol as Epidiolex (GW Pharma) in the treatment of Dravet and Lennox Gastaut syndromes, there remains much confusion with the role of hemp oils and other products for which there is no consistent product or evidence base for use. There is also much debate as to whether the psychoactive component, tetrahydrocannabinol is required for optimal effect, with no sound evidence base for support. The current position is that that data has been acquired for Epidiolex, and licence for use granted by the Federal Drug Administration, with data submitted to the European Medicines Authority. We await full licence and availability to enable prescription as a further therapeutic option for the complex developmental epileptic encephalopathies.
Paroxysmal fast activity: Does this EEG pattern occur only in Lennox-Gastaut syndrome?
Authors: Bento Claudia M.P. , Coan Ana Carolina , Guerreiro Marilisa M
Published: December 2019

Background: Paroxysmal fast activity (PFA) is defined by fast paroxysmal events in the electroencephalogram (EEG), usually associated with Lennox-Gastaut syndrome (LGS). Our aims were to verify the frequency of LGS and non-LGS in EEGs with PFA; and to correlate the EEG features (spatial distribution, frequency, amplitude and duration) between the two clinical groups.
Methods: We analyzed 38 EEG tracings with PFA from 38 patients. We evaluated the spatial distribution, frequency, amplitude and duration of fast paroxysms. The two clinical groups (LGS and non-LGS) were statistically compared relative to the EEG data.
Results: With regard to epileptic syndromes, 23 patients (60%) were classified as LGS and 15 patients (40%) as non-LGS. Concerning spatial distribution, our results showed that 86.8% of the examinations showed symmetrical PFA and 13.2% showed asymmetrical PFA. The statistical analysis did not show any difference between the two groups regarding the EEG spatial distribution or other EEG data.
Conclusions: PFA can occur in other epileptic syndromes apart from LGS. The EEG features did not offer any distinction between the two clinical groups. The PFA is not a specific EEG marker of LGS.
Creating new drugs design patterns.Step one.
Pharmaceutical development
Authors: Basevich Anna V. , Dzjuba Anatoliy S. , Kaukhova Irina E. , Andreeva Polina I.
Published: December 2019

To optimize the process of pharmaceutical development, it is necessary to take into account the timeframes of the processes and to track all its key stages. To do this, it is necessary to create an algorithm for conducting research, taking into account the modern approach to pharmaceutical development the concept of Quality by Design.

The aim of this work was to create an algorithm of actions in conducting research when developing a new drug that can be used in the production process.

Flowcharts were used for depicting algorithms. To account the timeframes of the processes, a Gantt diagram was used.

The process of pharmaceutical development when launching a new generic drug has been studied at an operating pharmaceutical company. An algorithm for the actions of staff involved in research is proposed The algorithm minds the concept of Quality by Design. A temporary Gannta scheme and a project manager's control card for the process of pharmaceutical development of a generic drug have been developed.

Based on the results of the work, an algorithm of actions in conducting research when developing a new drug that can be used in the production process was proposed.
Alopecia: from clinic to preclinic and back
Authors: Ivkin Dmitry Y. , Nogaeva Uliana V. , Flisyuk Elena V. , Pisetskaya Marina V. , Shtyrlin Yuri G.
Published: December 2019

On average, 6070% of men and 2540% of women suffer from various forms of hair loss on our planet. If we turn to WHO statistics, we can see that about 75% of Russians are more or less susceptible to baldness. The hair follicle is an appendage of the skin, a kind of mini-organ that cyclically changes throughout a persons life. Periods of regeneration and rapid growth (anagen) alternate with periods of involution (catagen) and dormancy (telogen). As a rule, hair begins to fall out when the correlation between the number of hair follicles in different phases of development is violated. The occurrence of alopecia is associated with the influence of heterogeneous etiological factors, which further determine the pathogenesis of the disease and the clinical picture. The treatment of alopecia requires the use of a personalized approach to each patient. Both medicinal and cosmetic compositions are available for therapy in different dosage forms. At the same time, there remains a need for the search for new active pharmaceutical substances and the development of drugs based on them. However, in order to develop effective therapies, we need to reconstruct in detail the pathogenesis of alopecia on animal models. Then the extrapolation of the result human-animal-human will be accurate and problem-free, and the search for new means successful.
Continuous glucose monitoring - proved hypoglycemia in sodium-glucose co-transporter-2 inhibitors - treated type 2 diabetes patients: a link to ketosis development
Authors: Levit Shmuel , Giveon Shmuel , Musin Ildar N. , Barnea Royi , Korek-Abadi Ifat , Levit Vyacheslav , Ryder Darian , Ryder Chen Hanna
Published: December 2019

Background: Latest studies have shown the remarkable ability of sodium-glucose co-transporter-2 inhibitors (SGLT2i) to reduce cardiovascular morbidity and mortality. However, real-life data and the results of several other studies seem to contradict these outcomes, pointing out possibilities of serious side effects. Ketoacidosis (KA) remains one of the most dangerous complications, yet, not fully understood. All of the above urgently requires real-practice data, which may shed some light on side effects of this novel anti-diabetic drug family.
Aims: To investigate the real-life rates of hypoglycemia and ketosis (K) in SGLT2i treated patients, using Continuous Glucose Monitoring (CGM) and capillary blood -hydroxybutyrate measurements.
Methods: We report the results of a two-year retrospective analysis of 136 Type 2 Diabetes (T2DM) patients, all (100%) treated with a SGLT2i, combined with Metformin or Metformin with Incretin-Based therapy (MT-IBT). CGM recordings were done in 52 persons. In 9 patients (Group A), CGM-proved hypoglycemic episodes were discovered. The rest of 43 patients (Group B) didnt show any hypoglycemia. Three patients in Group A and 11 from Group B were also treated with small doses of basal insulin on admission; the insulin was later discontinued in all patients of Group A and seven patients of Group B . Main characteristics of two groups were subsequently compared.
Results: CGM data analysis showed significantly lower average Sensor Glucose (SG) , 7.21.3 vs. 8.21.7 mmol/l, p=0.04, and estimated HbA1c , 6.10.7 vs. 6.81.1%, p=0.02, in Group A patients.
We also report three cases of ketosis, proved by elevated capillary -hydroxybutyrate concentrations. Pathophysiological link between frequent hypoglycemia rates (Six patients without insulin treatment (11.5 % in total CGM group of 52 patients)) and ketosis development (Three patients (2.2% in total cohort of 136 participants)) was suggested.
Conclusions: More frequent than previously reported rates of hypoglycemia and ketoacidosis were discovered in patients taking SGLT2 inhibitors. Pathophysiological link between the two conditions is assumed. More studies are needed to confirm our hypothesis.
He created a modern pharmacologist
Authors: Narkevich Igor A. , Zvyagin Yyri Yi. , Vorobieva Svetlana A. , Perelygin Vladimir V. , Dobrova Daria O.
Published: December 2019

From the editors: Editorial Board "Formula Pharmacy" plans to make a contribution to the preparation and publication on its pages of essays about all the rectors of Saint-Petersburg chemical-pharmaceutical University from the beginning of its existence up to the present time about other scientists, especially the veterans who gave years of his life and work for the benefit of pharmaceutical science.
A unified and simplified flow diagram of the production of active pharmaceutical ingredients and the finished dosage form
Authors: Gabidova Alfiya , Galynkin Valery
Published: December 2019

The article shows that all biotechnological processes consist of four stages which include the step of obtaining the biomass (micro-organisms), fitosyrya biomass (plants, lichens) and biomass from animal raw materials; obtaining the active pharmaceutical substance; obtaining the final dosage form; storage and sale of APS and SFS. The authors have proposed a unified and simplified process sequence that represents the life cycle of the production of APS and SFR, showing the potential risks. Introduction of the HACCP system at the same time to the GMP system allows the identification of CCPs and therefore to analyze the product and manage the risk only in the CCP. The authors have proposed a multi-level model of a complex of pharmaceutical quality system. It is necessary to emphasize that in all environmental conditions to obtain drugs should be carried out in strict compliance with GMP and HACCP system and under the strict control of all types of risk, and, in particular, be sure to microbiological risk.
Approaches to a comprehensive solution to the problem of medical waste management
Authors: Perelygin Vladimir , Sklyarova Nataliia , Paramonov Sergey , Pyatizbyantsev Timofey
Published: December 2019

Topical issues of medical waste compliance with Federal Law 89-ФЗ On Production and Consumption Wastes and aspects of conducting medical waste management activities in order to comply with this regulatory legal act are considered. It has been established that when medical waste falls under the federal law FZ-89, additional requirements for conducting waste management activities are not taken into account, the entry of medical waste into the Federal Classification Catalog of Waste (FCCW) as a separate unit and optimization of the certification of medical waste. In our opinion, there are currently gaps in the medical waste management activities in the environmental legislation of the Russian Federation and, as a consequence, in law enforcement practice. An algorithm of scientifically based approaches to solving the main problems of the existing problems that can be applied during the preparation and development of the Information and Technical Guide on the best available technologies (BAT) for medical waste management is proposed.
Impact of perioperative period on disease-free survival among carcinoma ovary patients treated with the interval cyto-reductive surgery at a tertiary cancer centre in Kerala, India: a retrospective study
Authors: Dharmarajan Adarsh , V. Vinin N. , Nair Chandran K. , Badesara Sanjay , Selvaraj Kalaiselvi , Rathi Priya
Published: December 2019

Background: Global incidence of ovarian malignancies is 300,000 as per GLOBOCAN 2018. The treatment protocol for advanced ovarian malignancies (stage IIIc and stage IV) includes neo-adjuvant chemotherapy and surgery followed by adjuvant chemotherapy. Aims of the study was to determine the effect of duration of chemo interruption on disease free survival of ovarian malignancies treated by interval cytoreduction followed by surgery.Methods: A total 48 patients were studied for events such as recurrence, death, patient’s status on last follow up, peri-operative period between 3rd cycle of chemo therapy and 4th cycle of chemo therapy. Based on the median duration of peri operative period patients was classified as early or delayed receivers of adjuvant chemo therapy. Difference in duration of over-all survival and disease-free survival was analysed through Kaplan Meier survival analysis using log-rank test. Hazard ratio adjusted for background characteristics such as staging, performance status, grade of tumour were analysed using cox proportional hazard model.Results: The two peri operative period categories based on mean value (85 days) didn’t show any significant association to disease free interval (minimum-21days, maximum-146 days, Hr = 1.3, p-value = 0.52). Other established factors like stage, extent of resection, response to chemotherapy, also didn’t show any significant association. Serum marker level showed a significant negative correlation with disease free survival (minimum-9 days, maximum-30659, p-value =.04, Hr = 3.19).Conclusions: The study could not establish any correlation between peri operative period and median disease-free survival. The small sample size is a limiting factor, well controlled randomized trials may needed for further clarification.
A study on perception about antenatal care among primigravida attending a tertiary care hospital
Authors: Somu Priya , D. Sakthi Narmatha
Published: December 2019

Background: Maternal mortality rate and Infant mortality rate remains high in India when compared to several other countries. Understanding and being aware about the basic care provided during pregnancy is an important factor to make the pregnant woman to utilize the antenatal care. Hence this study was planned to assess the existing knowledge of primi gravid mothers attending the tertiary health care center about the various antenatal care services provided.Methods: This cross-sectional study was conducted among the primi gravid females attending the outpatient department of Obstetrics and Gynecology in Sri Muthukumaran Medical College Hospital and Research Institute, Chennai during months of June 2018 to May 2019. A total of 280 primi gravid mothers were included in the study. Data was collected through one to one interview and analyzed using statistical package for social sciences (SPSS) version 17.Results: In this study 82.9%, 70.4%, 80.7% of the mothers were aware about consumption of IFA tablets, TT injection and adequate ANC visits, respectively. PNDT act was known to 76.1% of the participants. Only 12.5% of the primi mothers were aware about Janani Suraksha Yojna (JSY) scheme and 91.8% of the mothers were aware about Dr. Muthulakshmi Maternity Benefit scheme.Conclusions: Knowledge about ANC services was found to be fair among the primi mothers but not sufficient, which shows the need for the healthcare professionals to educate young woman even from adolescent age itself.
Utilization pattern of drugs among patients attending geriatric outpatient department in a tertiary care hospital in Kashmir
Authors: Tabassum Rehana , Hafiz Umar , Hussain Syed Sajad , Shah Asma , Shabir Afshan
Published: December 2019

Background: Quality and safety of prescribing in older people remains a global healthcare concern and inappropriate prescribing is a major public health issue because of its direct association with morbidity, mortality and wastage of health resources in this age group. Very limited data is available on the drug utilization pattern in geriatric population and the present study was carried out to see the prescription pattern in geriatric population in this part of the world.Methods: The present study was conducted by the department of pharmacology in outpatient department of geriatrics in a tertiary care centre to look into the prescription pattern among geriatric age group.Results: A total of 237 prescriptions were collected, out of which 108 (45.56%) were males and 129 (54.44%) were females. The majority of the patients were in the age group of 60-69 years (n=141, 59.5%). The most commonly found comorbidity was hypertension (63.29%) and antihypertensive agents (74.68%) were the most frequently prescribed class of drugs. Calcium (37.57%), budesonide (32.91%), thyroxine (27.84%) and pantoprazole (25.31%) were the most common individual drugs prescribed.Conclusions: Like other studies on geriatric population polypharmacy was also observed in the present study and periodic therapeutic audit is essential to ensure rational medicine use.
Peripheral neuropathy in Chronic Kidney Diseases: prevalence and its correlates
Authors: Gondhali Gajanan , Kundalwal Ashish , Takalkar Anant A.
Published: December 2019

Background: Peripheral polyneuropathy is most common Chronic Kidney Diseases (CKD) related complication with prevalence of more than 60%. The prevalence of peripheral neuropathy is directly proportional to duration and severity of CKD. Objective of the study was to study and assess the prevalence of peripheral neuritis and its correlates in patients with chronic kidney diseases.Methods: The present study was a cross sectional; descriptive study was conducted in October 2016 to October 2018. Data analysed by using SPSS 23.0 version.Results: Out of 90 subjects, majority were from 45-54 years age group (26). 70% were male and 30% were females. Out of 60 pre-HD patients, 33(55%) showed peripheral neuropathy. Out of 30 HD patients, 24(80%) showed peripheral neuropathy. Maximum percentage of PN seen in 45-54 age group (76.92%) amongst the 60 males 39 (65%) and amongst 30 females 18(60%) showed peripheral neuropathy. Maximum percentage of PN seen in >5 years age group (79.31%). Pure axonal sensory motor neuropathy (28.88%) was most common pattern.Conclusions: Peripheral neuropathy is very common in CKD, more common in dialysis patients as compared to predialysis patients.
The human genome structure and organization.
Authors: Makałowski W
Published: December 2019

Genetic information of human is encoded in two genomes: nuclear and mitochondrial. Both of them reflect molecular evolution of human starting from the beginning of life (about 4.5 billion years ago) until the origin of Homo sapiens species about 100,000 years ago. From this reason human genome contains some features that are common for different groups of organisms and some features that are unique for Homo sapiens. 3.2 x 10(9) base pairs of human nuclear genome are packed into 23 chromosomes of different size. The smallest chromosome - 21st contains 5 x 10(7) base pairs while the biggest one -1st contains 2.63 x 10(8) base pairs. Despite the fact that the nucleotide sequence of all chromosomes is established, the organisation of nuclear genome put still questions: for example: the exact number of genes encoded by the human genome is still unknown giving estimations from 30 to 150 thousand genes. Coding sequences represent a few percent of human nuclear genome. The majority of the genome is represented by repetitiVe sequences (about 50%) and noncoding unique sequences. This part of the genome is frequently wrongly called "junk DNA". The distribution of genes on chromosomes is irregular, DNA fragments containing low percentage of GC pairs code lower number of genes than the fragments of high percentage of GC pairs.
Some aspects of the SOS response system--a critical survey.
Authors: Janion C
Published: December 2019

The SOS system and SOS mutagenesis are frequently studied, or exploited to obtain an increase in mutagenicity of bacteria. Here a short survey is made of the phenomenon of SOS response with special attention to latest and less discussed data, especially the induction of the SOS system in response to cell starvation or mutation of certain genes and the role of inducible DNA polymerases.
Detection of alkylation damage in human lymphocyte DNA with the comet assay.
Authors: Collins A R , Dusinská M , Horská A
Published: December 2019

The enzyme 3-methyladenine DNA glycosylase II (AlkA) is a bacterial repair enzyme that acts preferentially at 3-methyladenine residues in DNA, releasing the damaged base. The resulting baseless sugars are alkali-labile, and under the conditions of the alkaline comet assay (single cell gel electrophoresis) they appear as DNA strand breaks. AlkA is no t lesion-specific, but has a low activity even w ith undamagedbases. We have tested the enzyme at different concentrations to find conditions that maximise detection of alkylated bases with minimal attack on normal, undamaged DNA. AlkA detects damage in the DNA of cells treated with low concentrations of methyl methanesulphonate. We also find low background levels of alkylated bases in normal human lymphocytes.
An introduction to DNA chips: principles, technology, applications and analysis.
Authors: Gabig M , Wegrzyn G
Published: December 2019

This review describes the recently developed GeneChip technology that provides efficient access to genetic information using miniaturised, high-density arrays of DNA or oligonucleotide probes. Such microarrays are powerful tools to study the molecular basis of interactions on a scale that would be impossible using conventional analysis. The recent development of the microarray technology has greatly accelerated the investigation of gene regulation. Arrays are mostly used to identify which genes are turned on or off in a cell or tissue, and also to evaluate the extent of a gene's expression under various conditions. Indeed, this technology has been successfully applied to investigate simultaneous expression of many thousands of genes and to the detection of mutations or polymorphisms, as well as for their mapping and sequencing.
Odyssey of agrobacterium T-DNA.
Authors: Ziemienowicz A
Published: December 2019

Agrobacterium tumefaciens, a plant pathogen, is characterized by the unique feature of interkingdom DNA transfer. This soil bacterium is able to transfer a fragment of its DNA, called T-DNA (transferred DNA), to the plant cell where T-DNA is integrated into the plant genome leading to "genetic colonization" of the host. The fate of T-DNA, its processing, transfer and integration, resembles the journey of Odysseus, although our hero returns from its long trip in a slightly modified form.
Effect of nuclear matrix attachment regions on transgene expression in tobacco plants.
Authors: Nowak W , Gawłowska M , Jarmołowski A , Augustyniak J
Published: December 2019

Matrix attachment regions (MARs) are thought to participate in the organization and segregation of independent chromosomal loop domains. Although there are several reports on the action of natural MARs in the context of heterologous genes in transgenic plants, in our study we tested a synthetic MAR (sMAR) with the special property of unpairing when under superhelical strain, for its effect on reporter gene expression in tobacco plants. The synthetic MAR was a multimer of a short sequence from the MAR 3' end of the immunoglobulin heavy chain (IgH) enhancer. This sMAR sequence was used to flank the beta-glucuronidase (GUS) reporter gene within the T-DNA of the binary vector pBI121. Vectors with or without the sMARs were then used to transform tobacco plants by Agrobacterium tumefaciens. Transgenic plants containing the sMAR sequences flanking the GUS gene exhibited higher levels of transgene expression compared with transgenic plants which lacked the sMARs. This effect was observed independently of the position of the sMAR at the 5' side of the reporter gene. However, variation of the detected transgene expression was significant in all transformed plant populations, irrespective of the construct used.
Isoprenoid biosynthesis via 1-deoxy-D-xylulose 5-phosphate/2-C-methyl-D-erythritol 4-phosphate (DOXP/MEP) pathway.
Authors: Wanke M , Skorupinska-Tudek K , Swiezewska E
Published: December 2019

Higher plants, several algae, bacteria, some strains of Streptomyces and possibly malaria parasite Plasmodium falciparum contain the novel, plastidic DOXP/MEP pathway for isoprenoid biosynthesis. This pathway, alternative with respect to the classical mevalonate pathway, starts with condensation of pyruvate and glyceraldehyde-3-phosphate which yields 1-deoxy-D-xylulose 5-phosphate (DOXP); the latter product can be converted to isopentenyl diphosphate (IPP) and eventually to isoprenoids or thiamine and pyridoxal. Subsequent reactions of this pathway involve transformation of DOXP to 2-C-methyl-D-erythritol 4-phosphate (MEP) which after condensation with CTP forms 4-diphosphocytidyl-2-amethyl-D-erythritol (CDP-ME). Then CDP-ME is phosphorylated to 4-diphosphocytidyl-2-amethyl-D-erythritol 2-phosphate (CDP-ME2P) and to 2-C-methyl-D-erythritol-2,4-cyclodiphosphate (ME-2,4cPP) which is the last known intermediate of the DOXP/MEP pathway. For- mation of IPP and dimethylallyl diphosphate (DMAPP) from ME-2,4cPP still requires clarification. This novel pathway appears to be involved in biosynthesis of carotenoids, phytol (side chain of chlorophylls), isoprene, mono-, di-, tetraterpenes and plastoquinone whereas the mevalonate pathway is responsible for formation of sterols, sesquiterpenes and triterpenes. Several isoprenoids were found to be of mixed origin suggesting that some exchange and/or cooperation exists between these two pathways of different biosynthetic origin. Contradictory results described below could indicate that these two pathways are operating under different physiological conditions of the cell and are dependent on the developmental state of plastids.
Effect of aluminium on plant growth and metabolism.
Authors: Mossor-Pietraszewska T
Published: December 2019

Aluminium toxicity is one of the major factors that limit plant growth and development in many acid soils. Root cells plasma membrane, particularly of the root apex, seems to be a major target of Al toxicity. However, strong interaction of Al3+, the main Al toxic form, with oxygen donor ligands (proteins, nucleic acids, polysaccharides) results in the inhibition of cell division, cell extension, and transport. Although the identification of Al tolerance genes is under way, the mechanism of their expression remains obscure.
Antioxidative defense to lead stress in subcellular compartments of pea root cells.
Authors: Malecka A , Jarmuszkiewicz W , Tomaszewska B
Published: December 2019

Lead, similar to other heavy metals and abiotic factors, causes many unfavorable changes at the subcellular and molecular levels in plant cells. An increased level of superoxide anion in Pisum sativum root cells treated with 1 mM Pb(NO3)2 evidenced oxidative stress conditions. We found increased activities of enzymatic components of the antioxidative system (catalase and superoxide dismutase) in the cytosol, mitochondrial and peroxisomal fractions isolated from root cells of Pisum sativum grown in modified Hoagland medium in the presence of lead ions (0.5 or 1 mM). Two isoenzyme forms of superoxide dismutase (Cu,Zn-SOD and Mn-SOD) found in different subcellular compartments of pea roots were more active in Pb-treated plants than in control. Increased amount of alternative oxidase accompanied by an increased activity of this enzyme was found in mitochondria isolated from lead-treated roots. These results show that plants storing excessive amounts of lead in roots defend themselves against the harmful oxidative stress caused by this heavy metal.
The influence of depletion of voltage dependent anion selective channel on protein import into the yeast Saccharomyces cerevisiae mitochondria.
Authors: Szczechowicz A , Hryniewiecka L , Kmita H
Published: December 2019

The supply of substrates to the respiratory chain as well as of other metabolites (e.g. ATP) into inner compartments of mitochondria is crucial to preprotein import into these organelles. Transport of the compounds across the outer mitochondrial membrane is enabled by mitochondrial porin, also known as the voltage-dependent anion-selective channel (VDAC). Our previous studies led to the conclusion that the transport of metabolites through the outer membrane of the yeast Saccharomyces cerevisiae mitochondria missing VDAC (now termed YVDAC1) is considerably restricted. Therefore we expected that depletion of YVDAC1 should also hamper protein import into the mutant mitochondria. We report here that YVDAC1-depleted mitochondria are able to import a fusion protein termed pSu9-DHFR in the amount comparable to that of wild type mitochondria, although over a considerably longer time. The rate of import of the fusion protein into YVDAC1-depleted mitochondria is dis- tinctly lower than into wild type mitochondria probably due to restricted ATP access to the intermembrane space and is additionally influenced by the way the supporting respiratory substrates are transported through the outer membrane. In the presence of ethanol, diffusing freely through lipid membranes, YVDAC1-depleted mitochondria are able to import the fusion protein at a higher rate than in the presence of external NADH which is, like ATP, transported through the outer membrane by facilitated diffusion. It has been shown that transport of external NADH across the outer membrane of YVDAC1-depleted mitochondria is supported by the protein import machinery, i.e. the TOM complex (Kmita & Budzińska, 2000, Biochim. Biophys. Acta 1509, 86-94.). Since the TOM complex might also contribute to the permeability of the membrane to ATP, it seems possible that external NADH and ATP as well as the imported preprotein could compete with one another for the passage through the outer membrane in YVDAC1-depleted mitochondria.