21 results on '"Arnab Nandy"'
Search Results
2. Joint scores in hemophilic arthropathy in children: Developing country perspectives
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Aritra Guha, Akash Rai, Arnab Nandy, Tanushree Mondal, Narayan Pandit, Sumantra Guha, Dipankar Gupta, and Rakesh Mondal
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Immunologic diseases. Allergy ,RC581-607 - Published
- 2020
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3. Neonatal septic arthritis: Indian perspective
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Akash Rai, Debrup Chakladar, Souravi Bhowmik, Tanushree Mondal, Arnab Nandy, Biplab Maji, Avijit Hazra, and Rakesh Mondal
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Immunologic diseases. Allergy ,RC581-607 - Published
- 2020
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4. A cloud based autonomous multipurpose system with self-communicating bots and swarm of drones.
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Himadri Nath Saha, Nisith K. Das, Susanta K. Pal, Srijita Basu, Supratim Auddy, Ratul Dey, Arnab Nandy, Debjit Pal, Nirjhar Roy, Dipanjan Mitra, Saunak Biswas, and Tamanna Maity
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- 2018
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5. A low cost fully autonomous GPS (Global Positioning System) based quad copter for disaster management.
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Himadri Nath Saha, Srijita Basu, Supratim Auddy, Ratul Dey, Arnab Nandy, Debjit Pal, Nirjhar Roy, Subhadeep Jasu, Ankita Saha, Soummyo Priyo Chattopadhyay, and Tamanna Maity
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- 2018
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6. COMPARISON BETWEEN PROPOFOL AND DEXMEDETOMIDINE INFUSION FOR CONTROLLED HYPOTENSION DURING FUNCTIONAL ENDOSCOPIC SINUS SURGERY
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Sanghita Layek and Arnab Nandy
- Abstract
Patients aged 18-60 years,ASA grade I, II, who had some middle ear pathology and scheduled to undergo middle ear surgery were included in the prospective, randomized, single blinded study. This study was done to evaluate the comparative efcacy of dexmedetomidine and propofol infusions in producing hypotensive anaesthesia as well as to determine the advantages and disadvantages in patients undergoing endoscopic sinus surgeries. Patients were enlisted for the study after obtaining informed risk consent and were randomly allocated into two groups, Group D (dexmedetomidine infusion receiving group ) and Group P (propofol infusion receiving group ) using a computer generated randomization chart. After induction, patients in Group D received dexmedetomidine maintenance infusion of 0.2-0.5 mcg/kg/hr . Patients in group P received propofol infusion at the rate of 50-150 mcg/kg/min. The target MAP was 60-70 mmHg or 30% below baseline value, whichever was greater. Oxygen saturation and end-tidal carbon dioxide were maintained throughout the surgery. Whether targets were achieved in terms of haemodynamics and other secondary parameters were compared in the two groups. It was found that targets were achieved in more number of cases in Group D than in Group P and there was signicant difference in between the two groups.
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- 2022
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7. Acute Onset Flaccid Paralysis as Presentation of Combined Central and Peripheral Demyelination in a Child: A Case Report
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Dipankar Gupta, Rakesh Mondal, Arnab Nandy, and Avishikta Das
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Acute flaccid paralysis ,Pathology ,medicine.medical_specialty ,Flaccid paralysis ,business.industry ,Applied Mathematics ,Scrub typhus ,medicine.disease ,Acute onset ,Peripheral demyelination ,medicine ,Presentation (obstetrics) ,medicine.symptom ,business - Abstract
Introduction: Inflammatory demyelinating disease like combined central and peripheral demyelination (CCPD) could have varied clinical presentation depending upon the topographical distribution of neural involvement. Case presentation: A seven-year-old child had presented with fever followed by acute onset flaccid paralysis and urinary retention. Weakness in the lower limbs as reported was ascending and symmetric in nature, while no history of trauma, band-like sensation or altered sensorium were documented. Superficial and deep tendon reflexes of both the lower limbs were absent. Routine blood investigations had revealed neutrophilic leucocytosis only. Serum IgM antibody for scrub typhus was found positive. CSF study didn’t show cyto-protein dissociation. NCV had demonstrated absence of F wave and H reflex in the peripheral nerves of lower limbs. Anti-ganglioside antibody profiles were negative. Subsequent investigations including MRI brain and spinal cord had revealed acute onset CCPD. Conclusion: Acute onset combined central and peripheral demyelination in a child had presented as acute flaccid paralysis of the lower limbs and the condition was temporally association with scrub typhus.
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- 2021
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8. HEALTH-RELATED QUALITY OF LIFE, LUNG FUNCTION AND ASTHMA CONTROL IN OBESE ASTHMATIC INDIAN CHILDREN
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Rashmi Yadav, Arnab Nandy, Sushil Kumar Kabra, and Rakesh Lodha
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Physiology ,Internal Medicine ,Cardiology and Cardiovascular Medicine - Published
- 2022
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9. How to make your child safe in viral pandemic
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Arnab Nandy, Rakesh Mondal, and Juhi Dutta
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New normal ,medicine.medical_specialty ,business.industry ,viruses ,Pandemic ,medicine ,Intensive care medicine ,business ,Child health - Abstract
The current coronavirus (CoV) disease-19 pandemic has taken the entire world to hell and back. While we are more focused on the containment of this virus from further spreading, there are certain imperceptible challenges which are gradually raging upfront to affect the overall child health. If they are not understood appropriately overtime, it can result into deleterious sequels in near future. The tangible effects of this viral pandemic also deserve similar attention alongside exploring the pathophysiology of medical illnesses caused by severe acute respiratory syndrome–CoV-2. A practical approach to address these issues has been discussed here considering “the new normal” as the future lifestyle.
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- 2020
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10. Newborn joint mechanics
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Rahul Majumdar, Sankar Kumar Das, Avijit Hazra, Arnab Nandy, Debadyuti Datta, and Rakesh Mondal
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musculoskeletal diseases ,Male ,medicine.medical_specialty ,business.industry ,Infant, Newborn ,Obstetrics and Gynecology ,Musculoskeletal physiology ,Infant ,Upper Extremity ,Joint mechanics ,Lower Extremity ,Pediatrics, Perinatology and Child Health ,Physical therapy ,Medicine ,Humans ,Observational study ,Female ,Range of Motion, Articular ,business - Abstract
We aimed to evaluate joint mechanics in newborn by goniometric assessment of major joints in healthy babies born at different gestational ages (GAs).An institution based observational study was carried out on healthy newborn babies within two days of birth. Study subjects were born at 28-41 completed weeks of gestation. The major joints of upper and lower limbs were assessed with manual goniometer for joint angles in relation to specific passive movements and range of motion (ROM) calculated where applicable. All measurements were made by a single observer with careful consideration of plane of movement and axes involved. Strength of association between joint angles and GA was quantified by Pearson'sSix major joints (shoulder, elbow, wrist, hip, knee, and ankle) were evaluated on either side in 433 babies. No significant differences were found between male and female babies and left or right side of the body. For most joints, a secular declining trend of joint angle or ROM was noted with good to strong inverse correlation with GA. The strongest associations were for flexion-extension ROM and adduction-abduction ROM at shoulder, palmar flexion at wrist and dorsiflexion at ankle joint withThe reading of a specific joint angle in the newborn infants was found to be dependent on GA. Precise calibration of gestation appropriate joint angles had laid down the foundation for functional assessment of multimodal joint mechanics.HighlightsEvaluation of newborn joint angles require stringent attention toward the plane and axis of the particular joint movement being assessed.Major joint angles and range of motion in newborn infants were observed to follow a secular declining trend according to the gestational age.Precise estimation of gestation appropriate joint angle will be helpful to understand the mechanics of musculoskeletal medicine in newborn.
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- 2021
11. Serum Ferritin as a Diagnostic Biomarker for Severity of Childhood Sepsis
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Arnab Nandy, Tanushree Mondal, Debadyuti Datta, Somosri Ray, Nitis Kumar, M. Divyoshanu Ivan, Avijit Hazra, and Rakesh Mondal
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ROC Curve ,Multiple Organ Failure ,Sepsis ,Pediatrics, Perinatology and Child Health ,Ferritins ,Humans ,Child ,Prognosis ,Shock, Septic ,Biomarkers ,Retrospective Studies - Abstract
To explore association between serum ferritin and severity of sepsis among children, and relate levels to the final outcome.This observational study was conducted in a tertiary care hospital between I February and 30 July, 2019. Serum ferritin level was estimated in children (age 6 months to 12 years) suffering from sepsis, irrespective of the probable etiology. Children with hemoglobinopathies, autoimmune diseases, previous blood transfusion, severe acute malnutrition, hemophagocytic lymphohistiocytosis and chronic hepatitis were excluded. The ferritin level was measured sequentially at pre-defined stages of illness viz., sepsis, severe sepsis, septic shock and multiorgan dysfunction syndrome (MODS). Association between serum ferritin and severity of sepsis was analyzed, and ferritin level was related to the final outcome of death or recovery by receiver operating characteristic (ROC) curve analysis.The study group included 47 children with sepsis who progressed to a state of MODS; 32 recovered from MODS. Significant differences in serum ferritin level were observed with severity of sepsis. There was clear demarcation of ferritin levels between sepsis severity stages. The proportion of death among the 47 MODS cases was 31.9% (95% CI 18.6 - 45.2%). ROC analysis in the MODS group indicated that serum ferritin1994.3 ng/mL predicts mortality (AUC 0.73 [95% CI 0.58-0.85]) with sensitivity 66.7% [95% CI 38.4-88%] and specificity 100.0% [95% CI 89.1-100%].There is clear demarcation of serum ferritin levels that can help differentiation of sepsis severity stages in children with sepsis. There is no such demarcation between survivors and non-survivors in MODS cases.
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- 2021
12. Evaluation of vitamin D profile in juvenile idiopathic arthritis
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Moumita Samanta, Tapas Kumar Sabui, Madhumita Nandi, Abu Sayeed Mullick, Arnab Nandy, and Sumantra Sarkar
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medicine.medical_specialty ,business.industry ,Arthritis ,Vitamins ,medicine.disease ,Vitamin D Deficiency ,Gastroenterology ,Arthritis, Juvenile ,Rheumatology ,Internal medicine ,Vitamin D and neurology ,Medicine ,Juvenile ,Humans ,Vitamin D ,business - Abstract
Objective To observe the association between serum vitamin D level and disease activity in juvenile idiopathic arthritis (JIA). Methods The observational study was conducted at a tertiary care hospital during 2017-2019. Patients suffered from JIA were recruited through purposive sampling which was stratified by the disease activity based on the Juvenile Arthritis Disease Activity Score 27 (JADAS27) criteria. Serum vitamin D was estimated alongside other laboratory parameters. The numerical and categorical variables were analysed with appropriate statistical tests. Results 40 subjects were studied where inactive disease was observed in nine subjects (22.5%), five subjects (12.5%) were found to be in low disease activity and moderate disease activity groups each, and twenty-one subjects (52.5%) had high disease activity. Considering the total sample size of the study, the mean (SD) JADAS27 score and serum vitamin D level were observed to be 12.02 (11.31) and 23.10 (5.93) respectively. A negative correlation was found between the JADAS27 score and serum vitamin D (r= -0.67). The corrected Chi-square test had revealed significant association between the status of serum vitamin-D and disease activity groups (=16.28; p Conclusions In JIA, higher grade of disease activity was found to be significantly associated with lower serum vitamin D.
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- 2021
13. Leave against Medical Advice in Children: Rural Indian Perspective
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Divyoshanu M Ivan, Mihir Sarkar, Sankar Kumar Das, Debadyuti Datta, Tanushree Mondal, Rakesh Mondal, Soumita Chel, and Arnab Nandy
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Male ,Pediatrics ,medicine.medical_specialty ,Neonatal age ,law.invention ,03 medical and health sciences ,0302 clinical medicine ,law ,030225 pediatrics ,Health care ,Medicine ,Humans ,030212 general & internal medicine ,Prospective Studies ,Prospective cohort study ,Child ,biology ,business.industry ,Infant, Newborn ,Odds ratio ,Lama ,biology.organism_classification ,Intensive care unit ,Intensive Care Units ,Infectious Diseases ,Pediatrics, Perinatology and Child Health ,Etiology ,Female ,Rural area ,business - Abstract
Objectives To determine the burden and etiological factors of leave against medical advice (LAMA) in Indian children. Methodology In this prospective study, legal guardians of 528 patients who took the decision of LAMA were interviewed (using structured question answers based multi-option) and data were captured over a period of 16 months. The resultant database was analyzed using standard statistical methods. Results About 6.12% of childhood LAMA cases were dealt out of total pediatric admission including newborns. Neonatal preponderance noted in cases of LAMA from intensive care unit (ICU; 57.14%, p Conclusions This study tried to elucidate the determinants of childhood LAMA in rural Indian setting.
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- 2020
14. Assessment of gestational age by new-born joint angles
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Rakesh Mondal, Arnab Nandy, Tanushree Mondal, DivyoshanuMondal Ivan, Tapti Sengupta, SankarKumar Das, D Goldar, and Avijit Hazra
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Pediatrics, Perinatology and Child Health - Published
- 2022
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15. Evaluation of vitamin D profile in juvenile idiopathic arthritis.
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Madhumita Nandi, Md Abu Sayeed Mullick, Arnab Nandy, Moumita Samanta, Sumantra Sarkar, and Tapas Kumar Sabui
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JUVENILE idiopathic arthritis ,VITAMIN D ,CHOLECALCIFEROL - Abstract
Objective: To observe the association between serum vitamin D level and disease activity in juvenile idiopathic arthritis (JIA). Methods: The observational study was conducted at a tertiary care hospital during 2017-2019. Patients suffered from JIA were recruited through purposive sampling which was stratified by the disease activity based on the Juvenile Arthritis Disease Activity Score 27 (JADAS27) criteria. Serum vitamin D was estimated alongside other laboratory parameters. The numerical and categorical variables were analysed with appropriate statistical tests. Results: 40 subjects were studied where inactive disease was observed in nine subjects (22.5%), five subjects (12.5%) were found to be in low disease activity and moderate disease activity groups each, and twenty-one subjects (52.5%) had high disease activity. Considering the total sample size of the study, the mean (SD) JADAS27 score and serum vitamin D level were observed to be 12.02 (11.31) and 23.10 (5.93) respectively. A negative correlation was found between the JADAS27 score and serum vitamin D (r= -0.67). The corrected Chi-square test had revealed significant association between the status of serum vitamin-D and disease activity groups (=16.28; p < .001). Conclusions: In JIA, higher grade of disease activity was found to be significantly associated with lower serum vitamin D. [ABSTRACT FROM AUTHOR]
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- 2022
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16. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review
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Prasanta Sardar, Debadyuti Datta, Arnab Nandy, and Tiswampati Naskar
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Infertility ,Weakness ,Pediatrics ,medicine.medical_specialty ,media_common.quotation_subject ,Intellectual disability ,lcsh:Medicine ,Physical examination ,Gonadal Agenesis ,Dysgenesis ,Hypergonadotropic hypogonadism ,Medicine ,Girl ,Gonadal agenesis ,media_common ,Paramesonephric derivatives ,medicine.diagnostic_test ,business.industry ,lcsh:R ,Anomalies ,medicine.disease ,Mentally retarded ,medicine.symptom ,XX karyotype ,business ,Congenital defect - Abstract
Introduction: Phenotypically normal pre-pubertal girl presenting with only a little delay in onset of puberty and emotional lability is seldom thought to be suffering from a serious underlying congenital defect at the outset. Amongst different congenital causes for such presentation, Mayer-Rokitansky-Küster-Hauser syndrome is scarcely reported so far. This condition usually manifests with primary amenorrhoea and infertility in phenotypically and karyotypically normal 46, XX females. In the atypical form of this syndrome additional congenital malformations involving mostly renal and skeletal systems are noticed along with Mullerian dust dysgenesis. Case description: A 12-year-old girl attended the adolescent clinic with complaints of generalised weakness, inadequate height gains and emotional lability. Initial clinical examination recorded genu valgus and absence of pubertal growth spurt. Subsequently, blood hormonal assay depicted hypergonadotropic hypogonadism state. Bilateral absence of gonads and Mullerian duct anomalies were detected further in an otherwise normal female karyotype (46, XX). No additional structural anomaly noticed. Developmental quotient assessment suggested intellectual disability. Conclusions: A stepwise approach incidentally revealed a rare condition like atypical form of MRKH syndrome where bilateral gonadal agenesis and Mullerian duct dysgenesis were present but without any additional congenital malformations. Assessment of cognitive function in such cases should be sought for. Early detection of such rare case helps in building the emotional support of the family members in advance, long before the time when the patient might eventually present with primary amenorrhoea or infertility.
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- 2019
17. Joint scores in hemophilic arthropathy in children: Developing country perspectives
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Sumantra Guha, Aritra Guha, Rakesh Mondal, Tanushree Mondal, Dipankar Gupta, Arnab Nandy, Narayan Pandit, and Akash Rai
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lcsh:Immunologic diseases. Allergy ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Developing country ,Magnetic resonance imaging ,Physical examination ,030204 cardiovascular system & hematology ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,Quality of life ,Interquartile range ,Internal medicine ,Radiological weapon ,Arthropathy ,medicine ,Coagulopathy ,Original Article ,business ,lcsh:RC581-607 ,030215 immunology - Abstract
OBJECTIVE: Hemophilia is a common X-linked recessive coagulopathy causing recurrent bleeding into the synovial joints and results in articular and periarticular abnormalities. To our knowledge, this is the first comprehensive study aimed at studying the clinico-radiological joint score evaluation in hemophilic arthropathy in children from a developing country and its possible impact on the quality of life. METHODS: In this hospital-based, prospective, descriptive study, all children presenting to the pediatric rheumatology clinic were studied. The joint physical examination was scored using the Hemophilia Joint Health Score 2.1 (HJHS 2.1). The patients were then subjected to imaging of the most affected joint using ultrasonography (USG) and magnetic resonance imaging (MRI). Detailed USG and MRI radiological evaluation was recorded in the predesigned proforma using the Hemophilia Early Arthropathy Detection with Ultra Sound (HEAD-US) score and MRI DENVER score. The physical quality of life as per Functional Independence Score in Hemophilia (FISH) was noted. The clinical, radiological, and functional scores were analyzed with an appropriate statistical measure. RESULTS: The mean age at presentation was 7.4 years (interquartile range 4.9–10), with the knee being the most common joint involved. All of the USG score, MRI score, and FISH score have a significant correlation (p
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- 2019
18. Evolution of clinical method for new-born infant maturity assessment
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Aritra Guha, Arnab Nandy, Rakesh Mondal, and Debadyuti Datta
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Gerontology ,medicine.medical_specialty ,Process (engineering) ,Birth weight ,Context (language use) ,Gestational Age ,03 medical and health sciences ,0302 clinical medicine ,Child Development ,Neonatal Screening ,medicine ,Humans ,Neonatology ,030219 obstetrics & reproductive medicine ,Physical Maturity ,business.industry ,Infant, Newborn ,Obstetrics and Gynecology ,Gestational age ,Maturity (finance) ,Clinical method ,Pediatrics, Perinatology and Child Health ,Infant, Small for Gestational Age ,business ,030217 neurology & neurosurgery ,Infant, Premature - Abstract
In the routine practice of neonatology, differentiating preterm premature new-born from small-for-date (SFD) new-born infant is an essential aspect to anticipate different clinical scenarios and monitor accordingly. Clinical assessment of new-born maturity is an invincible tool in resource poor areas for the purpose, without any prior investment. Over the past decades, clinical method for new-born infant maturity assessment has evolved intricately. From defining prematures with a mere statement of birth weight to clinical assessment of new-born as per gestational age with a comprehensive scheme based on neural and physical maturity characteristics of a new-born, clinical method for new-born maturity assessment has evolved substantially to the present where we stand. A complete review on the evolutionary history of clinical method for new-born infant maturity assessment will enable researchers in this field to get acquainted with the trend of past research work in accordance to the recent advancement all over the world. In the process, the lacunae still present in this area of study can be spotted which will invite new research proposals. Looking into the recent context, clinical method for assessing new-born infant maturity is making further forward shift with an attempt to quantify neuromuscular maturity criteria with further precision and incorporation of additional criteria."What is known - What is New" (Authors' summary)What is knownNeuro-muscular and external physical characteristic assessment together has greater significance for evaluating new-born infant's maturity as per gestational age over using individual one of them.Evaluation of brain maturity through passive muscle tone assessment of new-born infants with different maneuvers has the imperative role in determining new-born infant maturity.What is newClinical method for determining new-born infant maturity as per gestational age is being made explicit with the incorporation of criteria like feeding behavior of the new-born and objective assessment of anthropometric parameters, beside neuro-muscular and external physical characteristics evaluation.Neuro-muscular maturity can be quantified further with absolute values or closer range of values of different maneuvers and signs used in the clinical method for evaluating new-born infant maturity as per gestational age with more precision.
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- 2018
19. A low cost fully autonomous GPS (Global Positioning System) based quad copter for disaster management
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Debjit Pal, Arnab Nandy, Tamanna Maity, Srijita Basu, Supratim Auddy, Ankita Saha, SoummyoPriyo Chattopadhyay, Nirjhar Roy, Subhadeep Jasu, Himadri Nath Saha, and Ratul Dey
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Quadcopter ,Emergency management ,business.industry ,Computer science ,020209 energy ,05 social sciences ,Real-time computing ,ComputerApplications_COMPUTERSINOTHERSYSTEMS ,050801 communication & media studies ,02 engineering and technology ,Drone ,Field (computer science) ,0508 media and communications ,0202 electrical engineering, electronic engineering, information engineering ,Global Positioning System ,Wireless ,business ,Wireless sensor network ,Communication channel - Abstract
With the advent of real life applications in the fields of public safety like disaster management and defence, Quad copter is becoming more and more popular. Quad copter does not require any traffic signal; it can fly in the sky like bird and it can go anywhere as per requirement. This feature has boosted up the popularity of Quad copter in the community. Now a day's more and more fields get dependent on Quad copter, therefore the system needs to be more robust and less expensive. For example, in defence field security is the major issue, while in Disaster management time public safety is the major issue. The paper proposes a low cost, secure (as it has Global Positioning System installed in it, so it can hold at any position getting proper instruction by operator) and autonomous model for a Quad copter. This quadcopter can be controlled manually via transmitter (minimum 4 channel).
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- 2018
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20. A cloud based autonomous multipurpose system with self-communicating bots and swarm of drones
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Nirjhar Roy, Srijita Basu, Ratul Dey, Dipanjan Mitra, Supratim Auddy, Tamanna Maity, Arnab Nandy, Saunak Biswas, Nisith K. Das, Himadri Nath Saha, Susanta Kumar Pal, and Debjit Pal
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Robot kinematics ,Atmosphere (unit) ,business.industry ,Computer science ,Swarm robotics ,Swarm behaviour ,020206 networking & telecommunications ,Cloud computing ,02 engineering and technology ,Swarm intelligence ,Drone ,Human–computer interaction ,0202 electrical engineering, electronic engineering, information engineering ,Robot ,020201 artificial intelligence & image processing ,business - Abstract
The concept of Cloud based automated multipurpose system with self-communicating bots controlled by swarm of drones is a comprehensive and layered framework that caters to the needs of multiple facets of an application based project. Swarm robotics is an associate approach to the coordination of multi-robot systems that incorporates massive numbers of individual physical robots. A collective behaviour emerges from the interactions between the robots and interactions of robots with the atmosphere. This approach emerged on the sphere of artificial swarm intelligence influenced by the biological studies of insects, ants and alternative fields in nature, wherever swarm behaviour occurs. A key-component of this design is that the communication between the members of the cluster that build a system of constant feedback. Here the swarm intelligence has been used to devise a system of drones and bots intended for a set of tasks.
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- 2018
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21. Deviation of paradigmatic mutations found in shprintzen-goldberg syndrome
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Arnab Nandy, Shreyasi Das, Sumit Roy, and Sankar Kumar Das
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Psychoanalysis ,business.industry ,medicine ,Shprintzen–Goldberg syndrome ,medicine.disease ,business - Abstract
Shprintzen-Goldberg (S-G) Syndrome known as rare congenital connective tissue disorder where craniosynostosis and marfanoid habitus found to be the usual presentation. Craniofacial dysmorphism with multi-organ involvement documented to be amongst prominent features of this syndrome. Case characteristics is five-month-old male infant with craniosynostosis, and motor developmental delay was evaluated for congenital connective tissue disorder. Dysmorphic craniofacial features like dolichocephaly, triangular forehead, ocular hypertelorism, micrognathia and retrognathia were noticed besides congenital umbilical hernia, empty scrotal sac, clinodactyly with long slender fingers, hyper-mobile joints, hypotonia. Subsequent investigations revealed normal male karyotype (46, XY) while genetic analysis depicted missense mutations in six different genes. Conventionally, mutation in SKI gene reported for its’ associated with S-G syndrome where dysregulation of TGF-β signaling was discussed as the primary reason. In the present case discussed here, it was found to have polygenic mutational association where few novel genetic mutations were seen.
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- 2019
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