Search results for: congenital deformity

Authors: Uliana N. Tumanova, Viacheslav M. Lyapin, Vladimir G. Bychenko, Alexandr I. Shchegolev, Gennady T. Sukhikh

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It is well known that the gas formed as a result of postmortem decomposition of tissues can be detected already 24-48 hours after death. In addition, the conditions of keeping and storage of the corpse (temperature and humidity of the environment) significantly determine the rate of occurrence and development of posthumous changes. The presence of sepsis is accompanied by faster postmortem decomposition and decay of the organs and tissues of the body. The presence of gas in the vessels and cavities can be revealed fully at postmortem CT. Radiologists must certainly report on the detection of intraorganic or intravascular gas, wich was detected at postmortem CT, to forensic experts or pathologists before the autopsy. This gas can not be detected during autopsy, but it can be very important for establishing a diagnosis. To explore the possibility of postmortem CT for the evaluation of gas accumulations in the newborns' vessels, who died from congenital sepsis. Researched of 44 newborns bodies (25 male and 19 female sex, at the age from 6 hours to 27 days) after 6 - 12 hours of death. The bodies were stored in the refrigerator at a temperature of +4°C in the supine position. Grouped 12 bodies of newborns that died from congenital sepsis. The control group consisted of 32 bodies of newborns that died without signs of sepsis. Postmortem CT examination was performed at the GEMINI TF TOF16 device, before the autopsy. The localizations of gas accumulations in the vessels were determined on the CT tomograms. The sepsis diagnosis was on the basis of clinical and laboratory data and autopsy results. Gases in the vessels were detected in 33.3% of cases in the group with sepsis, and in the control group - in 34.4%. A group with sepsis most often the gas localized in the heart and liver vessels - 50% each, of observations number with the detected gas in the vessels. In the heart cavities, aorta and mesenteric vessels - 25% each. In control most often gas was detected in the liver (63.6%) and abdominal cavity (54.5%) vessels. In 45.5% the gas localized in the cavities, and in 36.4% in the vessels of the heart. In the cerebral vessels and in the aorta gas was detected in 27.3% and 9.1%, respectively. Postmortem CT has high diagnostic capabilities to detect free gas in vessels. Postmortem changes in newborns that died from sepsis do not affect intravascular gas production within 6-12 hours. Radiation methods should be used as a supplement to the autopsy, including as a kind of ‘guide’, with the indication to the forensic medical expert of certain changes identified during CT studies, for better definition of pathological processes during the autopsy. Postmortem CT can be recommend as a first stage of autopsy.

Keywords: congenital sepsis, gas, newborn, postmortem CT

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Authors: Michael Vieth, Aric Schadler, Hubert Ballard, J. A. Bauer, Pratibha Thakkar

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Introduction: Congenital diaphragmatic hernia (CDH) is a condition characterized by the herniation of abdominal contents into the thoracic cavity requiring postnatal surgical repair. Previous literature suggests improved CDH outcomes at high-volume regional referral centers compared to low-volume centers. The purpose of this study was to examine CDH outcomes at Kentucky Children’s Hospital (KCH), a low-volume center, compared to the Congenital Diaphragmatic Hernia Study Group (CDHSG). Methods: A retrospective chart review was performed at KCH from 2007-2019 for neonates with CDH, and then subdivided into two cohorts: those requiring ECMO therapy and those not requiring ECMO therapy. Basic demographic data and measures of mortality and morbidity including ventilator days and length of stay were compared to the CDHSG. Measures of morbidity for the ECMO cohort including duration of ECMO, clinical bleeding, intracranial hemorrhage, sepsis, need for continuous renal replacement therapy (CRRT), need for sildenafil at discharge, timing of surgical repair, and total ventilator days were collected. Statistical analysis was performed using IBM SPSS Statistics version 28. One-sample t-tests and one-sample Wilcoxon Signed Rank test were utilized as appropriate.Results: There were a total of 27 neonatal patients with CDH at KCH from 2007-2019; 9 of the 27 required ECMO therapy. The birth weight and gestational age were similar between KCH and the CDHSG (2.99 kg vs 2.92 kg, p =0.655; 37.0 weeks vs 37.4 weeks, p =0.51). About half of the patients were inborn in both cohorts (52% vs 56%, p =0.676). KCH cohort had significantly more Caucasian patients (96% vs 55%, p=<0.001). Unadjusted mortality was similar in both groups (KCH 70% vs CDHSG 72%, p =0.857). Using ECMO utilization (KCH 78% vs CDHSG 52%, p =0.118) and need for surgical repair (KCH 95% vs CDHSG 85%, p =0.060) as proxy for severity, both groups’ mortality were comparable. No significant difference was noted for pulmonary outcomes such as average ventilator days (KCH 43.2 vs. CDHSG 17.3, p =0.078) and home oxygen dependency (KCH 44% vs. CDHSG 24%, p =0.108). Average length of hospital stay for patients treated at KCH was similar to CDHSG (64.4 vs 49.2, p=1.000). Conclusion: Our study demonstrates that outcome in CDH patients is independent of center’s case volume status. Management of CDH with a standardized approach in a low-volume center can yield similar outcomes. This data supports the treatment of patients with CDH at low-volume centers as opposed to transferring to higher-volume centers.

Keywords: ECMO, case volume, congenital diaphragmatic hernia, congenital diaphragmatic hernia study group, neonate

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Authors: Fiona Lourenco, William Allen

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Dentofacial deformities are primarily surgically treated via orthognathic surgery. Health-related quality of life is concerned with aspects of quality of life that relate specifically to an individual’s health. Design and Setting: Retrospective analysis of patients who had orthognathic surgery from January 2018 - December 2022 at the trust using the previously validated Orthognathic Quality of Life questionnaire (OQoL). Materials and Methods: 32 Patient questionnaires (which included pre-operative and post-operative separate sections) were obtained via telephone survey. The data was analysed using the two-tailed paired t-test and Wilcoxon signed-rank test. Results: The change in perception post-surgery was highly significant (both tests resulted in p<0.001 for overall analysis as well as for each domain). Overall, a 74% improvement in QoL was seen following orthognathic surgery. Reports of improvement in each domain were as follows: 71% in the social aspect of the deformity domain, 76% in facial aesthetics, 60% in function, and 57% improvement in awareness of facial deformity. Conclusion: The assessment of QoL is becoming progressively imperative in clinical research. The above data shows that orthognathic surgery has a significant improvement in the QoL of patients post-operatively. The results demonstrate improvement in all domains, with perceptions in facial aesthetics seeing the highest change post-operatively.

Keywords: dentofacial, oral, facial asymmetry, orthognathic surgery, quality of life

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Authors: F. Kovács, K. Kádár, G. Hosszú, Á. T. Balogh, T. Zsedrovits, N. Kersner, A. Nagy, Gy. Jeney

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The paper presents a novel screening method to indicate congenital heart diseases (CHD), which otherwise could remain undetected because of their low level. Therefore, not belonging to the high-risk population, the pregnancies are not subject to the regular fetal monitoring with ultrasound echocardiography. Based on the fact that CHD is a morphological defect of the heart causing turbulent blood flow, the turbulence appears as a murmur, which can be detected by fetal phonocardiography (fPCG). The proposed method applies measurements on the maternal abdomen and from the recorded sound signal a sophisticated processing determines the fetal heart murmur. The paper describes the problems and the additional advantages of the fPCG method including the possibility of measurements at home and its combination with the prescribed regular cardiotocographic (CTG) monitoring. The proposed screening process implemented on a telemedicine system provides an enhanced safety against hidden cardiac diseases.

Keywords: cardiac murmurs, fetal phonocardiography, screening of CHDs, telemedicine system

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Authors: Devatha Kalyan Kumar, R. Poovarasan

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In this paper, we have taken certain important factors and health parameters of diabetes patients especially among children by birth (pediatric congenital) where using the above three metrics methods we are going to assess the importance of each attributes in the dataset and thereby determining the most highly responsible and co-related attribute causing diabetics among young patients. We use cost optimization, control chart and Spearmen methodologies for the real-time application of finding the data efficiency in this diabetes dataset. The Spearmen methodology is the correlation methodologies used in software development process to identify the complexity between the various modules of the software. Identifying the complexity is important because if the complexity is higher, then there is a higher chance of occurrence of the risk in the software. With the use of control; chart mean, variance and standard deviation of data are calculated. With the use of Cost optimization model, we find to optimize the variables. Hence we choose the Spearmen, control chart and cost optimization methods to assess the data efficiency in diabetes datasets.

Keywords: correlation, congenital diabetics, linear relationship, monotonic function, ranking samples, pediatric

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Authors: P. Panwalkar, K. Veravalli, R. Gwynn, M. Tofighi, R. Clement, A. Mofidi

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When operating on tibial plateau fracture especially medial tibial plateau, it has regularly been said “where do I put my thumb to reduce the fracture”. This refers to the ideal placement of the buttress device to hold the fracture till union. The aim of this study was to see if one can identify this sweet spot using a CT scan. Methods: Forty-five tibial plateau fractures with medial plateau involvement were identified and included in the study. The preoperative CT scans were analysed and the medial plateau involvement pattern was classified based on modified radiological classification by Yukata et-al of stress fracture of medial tibial plateau. The involvement of part of plateau was compared with position of buttress plate position which was classified as medial posteromedial or both. Presence and position of the buttress was compared with ability to achieve and hold the reduction of the fracture till union. Results: Thirteen fractures were type-1 fracture, 19 fractures were type-2 fracture and 13 fractures were type-3 fracture. Sixteen fractures were buttressed correctly according to the potential deformity and twenty-six fractures were not buttressed and three fractures were partly buttressed correctly. No fracture was over butressed! When the fracture was buttressed correctly the rate of the malunion was 0%. When fracture was partly buttressed 33% were anatomically united and 66% were united in the plane of buttress. When buttress was not used, 14 were malunited, one malunited in one of the two planes of deformity and eleven anatomically healed (of which 9 were non displaced!). Buttressing resulted in statistically significant lower mal-union rate (x2=7.8, p=0.0052). Conclusion: The classification based on involvement of medial condyle can identify the placement of buttress plate in the tibial plateau. The correct placement of the buttress plate results in predictably satisfactory union. There may be a correlation between injury shape of the tibial plateau and the fracture type.

Keywords: knee, tibial plateau, trauma, CT scan, surgery

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Authors: Dmitriy Syssoyev, Aslan Seitkamzin, Natalya Lim, Kamilla Mussina, Abduzhappar Gaipov, Dimitri Poddighe, Dinara Galiyeva

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Background: Data on the epidemiology of congenital heart defects (CHD) in Kazakhstan is scarce. Therefore, the aim of this study was to describe the incidence, prevalence and all-cause mortality of patients with CHD in Kazakhstan, using national large-scale registry data from the Unified National Electronic Healthcare System (UNEHS) for the period of 2014-2020. Methods: In this retrospective cohort study, the included data pertained to all patients diagnosed with CHD in Kazakhstan and registered in UNEHS between January 2014 and December 2020. CHD was defined based on International Classification of Diseases 10th Revision (ICD-10) codes Q20-Q26. Incidence, prevalence, and all-cause mortality rates were calculated per 100,000 population. Survival analysis was performed using Cox proportional hazards regression modeling and the Kaplan-Meier method. Results: In total, 66,512 patients were identified. Among them, 59,534 (89.5%) were diagnosed with a single CHD, while 6,978 (10.5%) had more than two CHDs. The median age at diagnosis was 0.08 years (interquartile range (IQR) 0.01 – 0.66) for people with multiple CHD types and 0.39 years (IQR 0.04 – 8.38) for those with a single CHD type. The most common CHD types were atrial septal defect (ASD) and ventricular septal defect (VSD), accounting for 25.8% and 21.2% of single CHD cases, respectively. The most common multiple types of CHD were ASD with VSD (23.4%), ASD with patent ductus arteriosus (PDA) (19.5%), and VSD with PDA (17.7%). The incidence rate of CHD decreased from 64.6 to 47.1 cases per 100,000 population among men and from 68.7 to 42.4 among women. The prevalence rose from 66.1 to 334.1 cases per 100,000 population among men and from 70.8 to 328.7 among women. Mortality rates showed a slight increase from 3.5 to 4.7 deaths per 100,000 in men and from 2.9 to 3.7 in women. Median follow-up was 5.21 years (IQR 2.47 – 11.69). Male sex (HR 1.60, 95% CI 1.45 - 1.77), having multiple CHDs (HR 2.45, 95% CI 2.01 - 2.97), and living in a rural area (HR 1.32, 95% CI 1.19 - 1.47) were associated with a higher risk of all-cause mortality. Conclusion: The incidence of CHD in Kazakhstan has shown a moderate decrease between 2014 and 2020, while prevalence and mortality have increased. Male sex, multiple CHD types, and rural residence were significantly associated with a higher risk of all-cause mortality.

Keywords: congenital heart defects (CHD), epidemiology, incidence, Kazakhstan, mortality, prevalence

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Authors: Ashish Kumar Agrahari, Amit Kumar

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Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal blood disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The disease is caused by the deficiency of two glycosylphosphatidylinositols (GPI)-anchored proteins (CD55 and CD59) in the hemopoietic stem cells. The deficiency of GPI-anchored proteins has been associated with the somatic mutations in phosphatidylinositol glycan class A (PIGA). However, the mutations that do not cause PNH is associated with the multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2). To best of our knowledge, no computational study has been performed to explore the atomistic level impact of PIGA mutations on the structure and dynamics of the protein. In the current work, we are mainly interested to get insights into the molecular mechanism of PIGA mutations. In the initial step, we screened the most pathogenic mutations from the pool of publicly available mutations. Further, to get a better understanding, pathogenic mutations were mapped to the modeled structure and subjected to 50ns molecular dynamics simulation. Our computational study suggests that four mutations are highly vulnerable to altering the structural conformation and stability of the PIGA protein, which illustrates its association with PNH and MCAHS2 phenotype.

Keywords: homology modeling, molecular dynamics simulation, missense mutations PNH, MCAHS2, PIGA

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Authors: Michael Zaidman, Naum Simanovsky

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Introduction. Symptomatic tarsal coalition with rigid flat foot often demands operative solution. An isolated coalition resection does not guarantee pain relief; correction of co-existing foot deformity may be required. The objective of the study was to analyze the results of combination of tarsal coalition resection and arthroereisis. Patients and methods. We retrospectively reviewed medical records and radiographs of children operatively treated in our institution for symptomatic calcaneonavicular or talocalcaneal coalition between the years 2019 and 2022. Eight patients (twelve feet), 4 boys and 4 girls with mean age 11.2 years, were included in the study. In six patients (10 feet) calcaneonavicular coalition was diagnosed, two patients (two feet) sustained talonavicular coalition. To quantify degrees of foot deformity, we used calcaneal pitch angle, lateral talar-first metatarsal (Meary's) angle, and talonavicular coverage angle. The clinical results were assessed using the American Orthopaedic Foot and Ankle Society (AOFAS) Ankle Hindfoot Score. Results. The mean follow-up was 28 month. The preoperative mean talonavicular coverage angle was 17,75º as compared with postoperative mean angle of 5.4º. The calcaneal pitch angle improved from mean 6,8º to 16,4º. The mean preoperative Meary’s angle of -11.3º improved to mean 2.8º. The preoperative mean AOFAS score improved from 54.7 to 93.1 points post-operatively. In nine of twelve feet, overall clinical outcome judged by AOFAS scale was excellent (90-100 points), in three feet was good (80-90 points). Six patients (ten feet) obviously improved their subtalar range of motion. Conclusion. For symptomatic stiff or rigid flat feet associated with tarsal coalition, the combination of coalition resection and arthroereisis leads to normalization of radiographic parameters, clinical and functional improvement with good patient’s satisfaction and likely to be more effective than the isolated procedures.

Keywords: rigid flat foot, tarsal coalition resection, arthroereisis, outcome

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Authors: Karakhalis N. B.

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This study aimed to determine the prevalence of heparin resistance among cardiac surgical pediatric and neonatal patients and identify associated risk factors. Materials and Methods: The study included 306 pediatric and neonatal patients undergoing on-pump cardiac surgery. Patients whose activated clotting time (ACT) targets were achieved after the first administration of heparin formed the 1st group (n=280); the 2nd group (n=26) included patients with heparin resistance. The initial assessment of the haemostasiological profile included determining the PT, aPPT, FG, AT III activity, and INR. Intraoperative control of heparinization was carried out with a definition of ACT using a kaolin activator. A weight-associated protocol at the rate of 300 U/kg with target values of ACT >480 sec was used for intraoperative heparinization. Results: The heparin resistance was verified in 8.5% of patients included in the study. Repeated heparin administration at the maximum dose of≥600 U/kg is required in 80.77% of cases. Despite additional heparinization, 19.23% of patients had FFP infusion. There was reduced antithrombin activity in the heparin resistance group (p=0.01). Most patients with heparin resistance (57.7%) were pretreated with low molecular weight heparins during the preoperative period. Conclusion: Determining the initial level of antithrombin activity can predict the risk of developing heparin resistance. The factor analysis verified hidden risk factors for heparin resistance to the heparin pretreatment, chronic hypoxia, and chronic heart failure.

Keywords: congenital heart disease, heparin, antithrombin, activated clotting time, heparin resistance

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Authors: H. Y. Al-Matubsi, G. A. Oriquat, M. Abu-Samak, O. A. Al Hanbali, M. Salim

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Background: Uncontrolled diabetes mellitus (DM) is an etiological factor for recurrent pregnancy loss and major congenital malformations in the offspring. Antioxidant therapy has been advocated to overcome the oxidant-antioxidant disequilibrium inherent in diabetes. The aims of this study were to evaluate the protective effect of lipoic acid (LA) on fetal outcome and to elucidate changes that may be involved in the mechanism(s) implicit diabetic fetopathy. Methods: Female rats were rendered hyperglycemic using streptozocin and then mated with normal male rat. Pregnant non-diabetic (group1; n=9; and group2; n=7) or pregnant diabetic (group 3; n=10; and group 4; n=8) rats were treated daily with either lipoic acid (LA) (30 mg/kg body weight; groups 2 and 4) or vehicle (groups 1 and 3) between gestational days 0 and 15. On day 15 of gestation, the rats were sacrificed, and the fetuses, placentas and membranes dissected out of the uterine horns. Following morphological examination, the fetuses, placentas and membranes were homogenized, and used to measure cyclooxygenases (COX) activities and metabolisms of prostaglandin (PG) E2 (PGEM) and PGF2 (PGFM) levels. Maternal liver and plasma total glutathione levels were also determined. Results: Supplementation of diabetic rats with LA was found to significantly (P<0.05) reduce resorption rates in diabetic rats and increased mean fetal weight compared to diabetic group. Treatment of diabetic rats with LA leads to a significant (P<0.05) increase in liver and plasma total glutathione, in comparison with diabetic rats. Decreased levels of PGEM and elevated levels of PGFM in the fetuses, placentas and membranes were characteristic of experimental diabetic gestation associated with malformation. LA treatment to diabetic mothers failed to normalize levels of PGEM to the non-diabetic control rats. However, the levels of PGEM in malformed fetuses from LA-treated diabetic mothers was significantly (P < 0.05) higher than those in malformed fetuses from diabetic rats. Conclusions: We conclude that LA can reduce congenital malformations in the offspring of diabetic rats at day 15 of gestation. However, LA treatment did not completely prevent the occurrence of malformations, other factors, such as arachidonic acid deficiency and altered prostaglandin metabolismmay be involved in the pathogenesis of diabetes-induced congenital malformations.

Keywords: diabetes, lipoic acid, pregnancy, prostaglandins

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Authors: Waleed Jarjoura

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In various cases of visual impairments, the individuals are referred to expert Ophthalmologists in order to establish a correct diagnosis. Children with visual-impairments confront various challenging experiences in life since early childhood throughout lifespan. In some cases, blind infants, especially due to congenital hydrocephalus, suffer from high intra-cranial pressure and, consequently, go through a ventriculo-peritoneal shunt surgery in order to limit the neurological symptoms or decrease the cognitive impairments. In this article, a detailed description of numerous crucial implications of the V/P shunt surgery, through the right posterior-inferior parieto-temporal cortex, on the observed preliminary capabilities that are pre-requisites for the acquisition of literacy skills in braille, basic Math competencies, braille printing which suggest Gerstmann syndrome in the blind. In addition, significant difficultiesorientation and mobility skills using the Cane, in general, organizational skills, and social interactions were observed. The primary conclusion of this report focuses on raising awareness among neuro-surgeons towards the need for alternative intracranial routes for V/P shunt implantation in blind infants that preserve the right posterior-inferior parieto-temporal cortex that is hypothesized to modulate the tactual-spatial cues in braille discrimination. A second conclusion targets educators and therapists that address the acquired dysfunctionsin blind individuals due to V/P shunt surgeries.

Keywords: congenital blindness, hydrocephalus, shunt surgery, spatial orientation

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Authors: Gehan Hussein, Hams Ahmad, Baher Matta, Yasmeen Mansi, Mohamad Fawzi

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Background: Congenital heart disease (CHD) is a common problem worldwide with variable incidence in different countries. The exact etiology is unknown, suggested to be multifactorial. We aimed to study the incidence of various CHD in a neonatal intensive care unit (NICU) in a tertiary care hospital in Egypt and the possible associations with variable risk factors. Methods: Prospective study was conducted over a period of one year (2013 /2014) at NICU KasrAlAini School of Medicine, Cairo University. Questionnaire about possible maternal and/or paternal risk factors for CHD, clinical examination, bedside echocardiography were done. Cases were classified into groups: group 1 without CHD and group 2 with CHD. Results: from 723 neonates admitted to NICU, 180 cases were proved to have CHD, 58 % of them were males. patent ductus arteriosus(PDA) was the most common CHD (70%), followed by an atrial septal defect (ASD8%), while Fallot tetralogy and single ventricle were the least common (0.45 %) for each. CHD was found in 30 % of consanguineous parents Maternal age ≥ 35 years at the time of conception was associated with increased incidence of PDA (p= 0.45 %). Maternal diabetes and insulin intake were significantly associated with cases of CHD (p=0.02 &0.001 respectively), maternal hypertension and hypothyroidism were both associated with VSD, but the difference did not reach statistical significance (P=0.36 &0.44respectively). Maternal passive smoking was significantly associated with PDA (p=0.03). Conclusion: The most frequent CHD in the studied population was PDA, followed by ASD. Maternal conditions as diabetes was associated with VSD occurrence.

Keywords: NICU, risk factors, congenital heart disease, echocardiography

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Authors: Marzieh Amiri, Zahra Iranpour Mobarakeh, Fatemeh Mehrbakhsh, Mehran Amiri

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Introduction: Early diagnosis and intervention of congenital hearing loss is necessary to minimize the adverse effects of hearing loss. The aim of the present study was to report the results of newborn hearing screening in a centerin the south part of Iran, Fasa. Material and methods: In this study, the data related to 6,144 newbornsduring September 2018 up to September2021, was analyzed. Hearing screening was performed using transient evoked otoacoustic emissions (TEOAEs) and automated auditory brainstem response (AABR) tests. Results: From all 6144 newborns,3752 and 2392referred to the center from urban and rural part of Fasa, respectively. There were 2958 female and 3186 male in this study. Of 6144 newborns, 6098 ones passed the screening tests, and 46 neonates were referred to a diagnostic audiology clinic. Finally, nine neonates were diagnosed with congenital hearing loss (seven with sensorineural hearing loss and two with conductive hearing loss). The severity of all the hearing impaired neonates was moderate and above. The most important risk factors were family history of hearing loss, low gestational age, NICU hospitalization, and hyperbilirubinemia. Conclusion: Our results showed that the prevalence of hearing loss was 1.46 per 1000 infants. Boosting public knowledge by providing families with proper education appears to be helpful in preventing the negative effects of delayed implementation of health screening programs.

Keywords: newborn hearing screening, hearing loss, risk factor, prevalence

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Authors: Manali Jain, Neeta Singh, Raunaq Fatima, Soniya Nityanand, Mandakini Pradhan, Chandra Prakash Chaturvedi

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Isolated Congenital Heart Defect (ICHD) is the major cause of neonatal death worldwide among all forms of CHDs. A significant proportion of fetuses with ICHD die in the neonatal period if no treatment is provided. Recently, stem cell therapies have emerged as a potential approach to ameliorate ICHD in children. ICHD is characterized by cardiac structural abnormalities during embryogenesis due to alterations in the cardiomyogenic properties of a pool of cardiac progenitors/ stem cells associated with fetal heart development. The stem cells present in the amniotic fluid (AF) are of fetal origin and may reflect the physiological and pathological changes in the fetus during embryogenesis. Therefore, in the present study, the cardiomyogenic potential of AF-MSCs derived from fetuses with ICHD (ICHD AF-MSCs) has been evaluated and compared with that of AF-MSCs of structurally normal fetuses (normal AF-MSCs). Normal and ICHD AF-MSC were analyzed for the expression of cardiac progenitor markers viz., stage-specific embryonic antigen-1 (SSEA-1), vascular endothelial growth factor 2 (VEGFR-2) and platelet-derived growth factor receptor-alpha (PDGFR-α) by flow cytometry. The immunophenotypic characterization revealed that ICHD AF-MSCs have significantly lower expression of cardiac progenitor markers VEGFR-2 (0.14% ± 0.6 vs.48.80% ± 0.9; p <0.01), SSEA-1 (70.86% ± 2.4 vs. 88.36% ±2.7; p <0.01), and PDGFR-α (3.92% ± 1.8 vs. 47.59% ± 3.09; p <0.01) in comparison to normal AF-MSCs. Upon induction with 5’-azacytidine for 21 days, ICHD AF-MSCs showed a significantly down-regulated expression of cardiac transcription factors such as GATA-4 (0.4 ± 0.1 vs. 6.8 ± 1.2; p<0.01), ISL-1 (2.3± 0.6 vs. 14.3 ± 1.12; p<0.01), NK-x 2-5 (1.1 ± 0.3 vs. 14.1 ±2.8; p<0.01), TBX-5 (0.4 ± 0.07 vs. 4.4 ± 0.3; p<0.001), and TBX-18 (1.3 ± 0.2 vs. 4.19 ± 0.3; p<0.01) when compared with the normal AF-MSCs. Furthermore, immunocytochemical staining revealed that both types of AF-MSCs could differentiate into cardiovascular lineages and express cardiomyogenic, endothelial, and smooth muscle actin markers, viz., cardiac troponin (cTNT), CD31, and alpha-smooth muscle actin (α-SMA). However, normal AF-MSCs showed an enhanced expression of cTNT (p<0.001), CD31 (p<0.01), and α-SMA (p<0.05), compared to ICHD AF-MSCs. Overall, these results suggest that the ICHD-AF-MSCs have a defective cardiomyogenic differentiation potential and that the defects in these stem cells may have a role in the pathogenesis of ICHD.

Keywords: amniotic fluid, cardiomyogenic potential, isolated congenital heart defect, mesenchymal stem cells

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Authors: Sudheer Moorkoth, Leslie Edward Lewis, Pragna Rao

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Newborn screening (NBS) is a part of routine newborn care in many countries worldwide to detect early any rare treatable conditions and inborn errors of metabolism (IEM). India has not started this program yet. In an attempt to understand the challenges in implementing a national newborn screening program in India, we initiated a pilot newborn screening project funded by the Government of Canada. Along with initiating the newborn screening at Kasturba Hospital, Manipal in South India, for screening six disorders (Congenital Hypothyroidism(CH), Congenital Adrenal Hyperplasia (CAH), Galactosemia, Biotinidase deficiency, Glucose-6-Phosphate Dehydrogenase deficiency (G-6PD) and Phenylketonurea), we also studied the awareness of various stakeholders on the newborn screening. In a period of nine months from August 2017 to March 2018 we could screen 1915 newborns (999 male and 916 female). The result showed that there were seven babies screened positive. This interim result points to an incidence rate of 1 in 270 children for these rare disorders collectively. This includes three confirmed cases of CH, two cases of G-6PD deficiency, and one case each for Galctosemia and CAH. A questionnaire based study to understand the awareness among various stakeholders revealed that there is little awareness among parents, adolescents and anganwadi workers (public health worker). The interim data points to the need for a national newborn screening programme in India. There is also an immediate need to undertake large-scale awareness programme to create knowledge on NBS among the various stakeholders.

Keywords: awareness, inborn errors of metabolism (IEM), newborn screening, rare disease

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Authors: Bawa Yusuf Muhammad, Musa Abubakar Kana, Aminatu Abdulrahman, Kerry Goetz

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Background: Inherited eye diseases are disorders that affect globally, 1 in 1000 people. The six main world populations have created databases containing information on eye genotypes. Aim: The aim of the scoping review was to mine and present the available information to date on the genetics of inherited eye diseases within the African continent. Method: Literature Search Strategy was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). PubMed and Google Scholar searched for articles on inherited eye diseases from inception to 20th June 2022. Both Original and review articles that report on inherited, genetic or developmental/congenital eye diseases within the African Continent were included in the research. Results: A total of 1162 citations were obtained, but only 37 articles were reviewed based on the inclusion and exclusion criteria. The highest output of publications on inherited eye diseases comes from South Africa and Tunisia (about 43%), followed by Morocco and Egypt (27%), then Sub-Saharan Africa and North Africa (13.50%), while the remaining articles (16.5%) originated from Nigeria, Ghana, Mauritania Cameroon, Zimbabwe and combined article between Zimbabwe and Cameroon. Glaucoma and inherited retinal disorders represent the most studied diseases, followed by Albinism and congenital cataracts, respectively. Conclusion: Despite the growing research from Tunisia, Morocco, Egypt and South Africa, Sub-Saharan Africa remains almost a virgin region to explore the genetics of eye diseases.

Keywords: inherited eye diseases, Africa, scoping review, longitudinal eye study

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Authors: Engy Shokry, Giancarlo La Marca, Maria Luisa Della Bona

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Newborn screening for Congenital Adrenal Hyperplasia (CAH) relies on quantification of 17α-hydroxyprogesterone using enzyme immunoassays. These assays, in spite of being rapid, readily available and easy to perform, its reliability was found questionable due to lack of selectivity and specificity resulting in large number of false-positives, consequently family anxiety and associated hospitalization costs. To improve specificity of conventional 17α-hydroxyprogesterone screening which may experience false transient elevation in preterm, low birth weight or acutely ill neonates, steroid profiling by LC-MS/MS as a second-tier test was implemented. Unlike the previously applied LC-MS/MS methods, with the disadvantage of requiring a relatively high number of blood drops. Since newborn screening tests are increasing, it is necessary to minimize the sample volume requirement to make the maximum use of blood samples collected on filter paper. The proposed new method requires just one 3.2 mm dried blood spot (DBS) punch. Extraction was done using methanol: water: formic acid (90:10:0.1, v/v/v) containing deuterium labelled internal standards. Extracts were evaporated and reconstituted in 10 % acetone in water. Column switching strategy for on-line sample clean-up was applied to improve the chromatographic run. The first separative step retained the investigated steroids and passed through the majority of high molecular weight impurities. After the valve switching, the investigated steroids are back flushed from the POROS® column onto the analytical column and separated using gradient elution. Found quantitation limits were 5, 10 and 50 nmol/L for 17α-hydroxyprogesterone, androstenedione and cortisol respectively with mean recoveries of between 98.31-103.24 % and intra-/ inter-assay CV% < 10 % except at LLOQ. The method was validated using standard addition calibration and isotope dilution strategies. Reference ranges were determined by analysing samples from 896 infants of various ages at the time of sample collection. The method was also applied on patients with confirmed CAH. Our method represents an attractive combination of low sample volume requirement, minimal sample preparation time without derivatization and quick chromatography (5 min). The three steroid profile and the concentration ratios (17OHP + androstenedione/cortisol) allowed better screening outcomes of CAH reducing false positives, associated costs and anxiety.

Keywords: congenital adrenal hyperplasia (CAH), 17α-hydroxyprogesterone, androstenedione, cortisol, LC-MS/MS

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Authors: Pegah Ebrahimi, Farshad Oveissi, Iman Manavi-Tehrani, Sina Naficy, David F. Fletcher, Fariba Dehghani, David S. Winlaw

Abstract:

Despite advances in modern surgery, congenital heart disease remains a medical challenge and a major cause of infant mortality. Cardiovascular prostheses are routinely used in surgical procedures to address congenital malformations, for example establishing a pathway from the right ventricle to the pulmonary arteries in pulmonary valvar atresia. Current off-the-shelf options including human and adult products have limited biocompatibility and durability, and their fixed size necessitates multiple subsequent operations to upsize the conduit to match with patients’ growth over their lifetime. Non-physiological blood flow is another major problem, reducing the longevity of these prostheses. These limitations call for better designs that take into account the hemodynamical and anatomical characteristics of different patients. We have integrated tissue engineering techniques with modern medical imaging and image processing tools along with mathematical modeling to optimize the design of cardiovascular grafts in a patient-specific manner. Computational Fluid Dynamics (CFD) analysis is done according to models constructed from each individual patient’s data. This allows for improved geometrical design and achieving better hemodynamic performance. Tissue engineering strives to provide a material that grows with the patient and mimic the durability and elasticity of the native tissue. Simulations also give insight on the performance of the tissues produced in our lab and reduce the need for costly and time-consuming methods of evaluation of the grafts. We are also developing a methodology for the fabrication of the optimized designs.

Keywords: computational fluid dynamics, cardiovascular grafts, design optimization, tissue engineering

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Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

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Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

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Authors: Madeleine Gadd, Rose How, Edward Mathews, John Buchanan, Vicky Cottrell, Andre Coetzee, Karuna Katti

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Introduction: Triphallia, a congenital anomaly describing the presence of three distinct penile shafts, has been reported only once in the literature. This case report describes the serendipitous discovery of the first reported human case of partial orthotopic triphallia during cadaveric dissection. Case Summary: Despite the normal appearance of external genitalia on examination, the dissection of a 78-year-old male revealed a remarkable anatomical variation: two small supernumerary penises situated in a transverse orientation postero inferiorly to the primary penis. The main and the larger supernumerary penile shafts displayed their own corpora cavernosa and glans penis, sharing a single urethra, which coursed through the secondary penis prior to its passage through the primary penis. The smallest of the supernumerary penises was similar in dimension to the secondary penis, at 3.7cm long and 1.2cm wide (compared to the secondary penis at 3.8cm long and 1.3cm wide). However, it lacked a urethra and a typical arrangement of the corpora cavernosa and spongiosum, making this a case of partial triphallia rather than true triphallia. Conclusion: This case report provides a comprehensive anatomical description of partial triphallia in a cadaver, shedding light on the morphology, embryology, and clinical implications of this anomaly. This case report underscores the importance of meticulous anatomical dissections, particularly since, without dissection, this anatomical variation would have remained undiscovered. Although we can only speculate the functional implications of this condition, understanding such anatomical variations contributes to both knowledge of human anatomy and clinical management, should the condition be encountered in living individuals.

Keywords: triphallia, diphallia, congenital abnormalities, genitourinary abnormalities, urology

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Authors: Hyunsang Kim, Younghun Kim, Younghee Kim, Sangku Lee

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We investigated ecotoxicity and performed an experiment for removing ZnO nanoparticles in water. Short-term exposure of hatching test using fertilized eggs (O. latipes) showed deformity in 5 ppm of ZnO nanoparticles solution, and in 10ppm ZnO nanoparticles solution delayed hatching was observed. Herein, chemical precipitation method was suggested for removing ZnO nanoparticles in water. The precipitated ZnO nanoparticles showed the form of ZnS after addition of Na2S, and the form of Zn3(PO4)2 for Na2HPO4. The removal efficiency of ZnO nanoparticles in water was closed to 100% for two case. In ecotoxicity evaluation of as-precipitated ZnS and Zn3(PO4)2, they did not cause any acute toxicity for D. magna. It is noted that this precipitation treatment of ZnO is effective to reduce the potential cytotoxicity.

Keywords: ZnO nanopraticles, ZnS, Zn3(PO4)2, ecotoxicity evaluation, chemical precipitation

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Authors: Priscilla Akua Agyapong

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Background: In a country of nearly 34 million people, Ghana suffers from rapidly growing pediatric CHD cases and not enough pediatric specialists to attend to the burgeoning needs of these children. Most of the cases are either missed or diagnosed late, resulting in increased mortality. According to the National Cardiothoracic Centre, 1 in every 100,000 births in Ghana has CHD; however, there is limited data on the clinical presentation and its management, one of the many reasons I decided to do this case study coupled with the loss my 2 month old niece to multiple Ventricular Septal Defect 3 years ago due late diagnoses. Method: A retrospective cohort study was performed at the child health clinic of one of Ghana’s public tertiary Institutions using data from their electronic health record (EHR) from February 2021 to April 2022. All suspected or provisionally diagnosed cases were included in the analysis. Results: Records of over 3000 children were reviewed with an approximate male to female ratio of 1:1.53 cases diagnosed during the period of study, most of whom were less than 5 years of age. 25 cases had complete clinical records, with acyanotic septal defects being the most diagnosed. 62.5% of the cases were ventricular septal defects, followed by Patent Ductus Arteriosus (23%) and Atrial Septal Defects (4.5%). Tetralogy of Fallot was the most predominant and complex cyanotic CHD with 10%. Conclusion: The indeterminate coronary anatomy of infants makes it difficult to use only echocardiography and other conventional clinical methods in screening for CHDs. There are rising modernizations and new innovative ways that can be employed in Ghana for early detection, hence preventing the delay of a potential surgical repair. It is, therefore, imperative to create the needed awareness about these “SILENT CRISES” and help save the Ghanaian child’s life.

Keywords: congenital heart defect(CHD), ventricular septal defect(VSD), atrial septal defect(ASD), patent ductus arteriosus(PDA)

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Authors: Abdulwhab Alotaibi, Abdullah Alzahrani, Ziyad Bokhari, Abdulelah Alghamdi

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First described in 1975 by Dr. Miller, Medical dressings are uncommon but possible cause of hand digital ischemia due the tourniquet-like effect. The incident of this complication has been reported across wide range of age-groups, yet it seems like that the pediatric population are specifically vulnerable. Multiple dressing types were reported to have caused ischemic injury, such as elastic wrap, tubular gauze, and self-adherent dressings. We present a case of medical dressing induced digital ischemia in patient with Congenital insensitivity to pain and anhidrosis (CIPA), which further challenge the discovery of the condition. An 8-year-old girl known case of CIPA. Brought by her mother to the ER after nail bed injury, which she managed by application of elastic wrap that was left for 24 hours. When the mother found out she immediately removed the elastic band, and noticed the fingertip was black and cold with tense bullae. The color then changed later when she arrived to the ER to dark purple with bluish discoloration on the tip. On examination there was well demarcated tense bullae on the distal right fifth finger. Neurovascular intact, pulse oximetry on distal digit 100%, capillary refill time was delayed. She was seen under Plastic surgery and conservative management recommended, and patient was discharged with safety netting. Two days later the patient came as follow-up visit at which her condition demonstrated significant improvement, the bullae has since ruptured leaving behind sloughed skin, capillary refill and pulse oximetry were both within normal limits, sensory function couldn’t be assessed but her motor function and ROM were normal, topical bacitracin and bandage dressings were applied for the eroded skin. Patient was scheduled for a follow-up in 2 weeks. Preventatively it’s advisable to avoid the commonly implicated dressings such as elastic, tubular gauze or self-adherent wraps in hand or digital injuries when possible, but in cases where the use of these dressings is of necessity the appropriate precautions must be taken, Dr. Makarewich proposed the following 5 measures to help minimize the incidence of the injury: 1-Unwrapping 12 inches of the dressing before rolling the injured finger. 2-Wrapping from distal to proximal with minimal tension to avoid vascular embarrassment. 3-The use of 5-25 inch to overlap the entire wrap. 4-Maintaining light pressure over the wrap to allow adherence of the dressing. 5-Minimization of the number of layers used to wrap the affected digit. Also assessing the capillary refill after the application can help in determining the patency of the supplying blood vessels. It’s also important to selectively determine if the patient is a candidate for conservative management, as tailored approach can help in maximizing the positive outcomes for our patients.

Keywords: congenital insensitivity to pain, digital ischemia, medical dressing, conservative management

Procedia PDF Downloads 38

Authors: Ndiaye Mouhamadou, Seck Abdoulaye, Ndiaye Babacar, Diallo Thierno Abdoulaye, Diop Abdou, Seck Mame Cheikh, Diongue Khadim, Badiane Aida Sadikh, Diallo Mamadou Alpha, Kouedvidjin Ekoué, Ndiaye Daouda

Abstract:

Background: Toxoplasmosis is a parasite disease that presents high rates of gestational and congenital infection worldwide and is therefore considered a public health problem and a neglected disease. The aim of this study was to determine the seroprevalence of toxoplasmosis in pregnant women referred to the medical biology laboratory of the Pasteur Institute of Dakar (Senegal) between January 2014 and December 2019. Methodology: This was a cross-sectional, descriptive, retrospective study of 10892 blood samples from pregnant women aged 16 to 46 years. The Architect toxo IgG/IgM from Abbot Laboratories, which is a chemiluminescent microparticle immunoassay (CMIA), was used for the quantitative determination of antibodies against Toxoplasma gondii in human serum. Results: In total, over a period from January 2014 to December 2019, 10892 requests for toxoplasmosis serology in pregnant women were included. The age of the patients included in our series ranged from 16 to 46 years. The mean age was 31.2 ± 5.72 years. The overall seroprevalence of T. gondii in pregnant women was estimated to be 28.9% [28.0-29.7]. In a multivariate logistic regression analysis, after adjustment for a covariate such as a study period, pregnant women aged 36-46 years were more likely to carry IgG antibodies to T. gondii than pregnant women younger than 36 years. Conclusion: T. gondii seroprevalence was significantly higher in pregnant women older than 36 years, leaving younger women more susceptible to primary T. gondii infection and their babies to congenital toxoplasmosis. There will be a need to increase awareness of the risk factors for toxoplasmosis and its different modes of transmission in these high-risk groups, but this should be supported by epidemiologic studies of the distribution of risk factors for toxoplasmosis in pregnant women and women of childbearing age.

Keywords: toxoplasmosis, pregnancy, seroprevalence, Senegal

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Authors: Koteswara Rao Pagolu, Raghava Rao Tamanam

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The present study was aimed to find out the prevalence of DD's in Visakhapatnam, one of the north coastal districts of Andhra Pradesh, India during a span of five years. A cross-sectional investigation was held at District early intervention center (DEIC), Visakhapatnam from 2016 to 2020. To identify the pattern and trend of different DD's including seasonal variations, a retrospective analysis of the health center's inpatient database for the past 5 years was done. Male and female children aged 2 months-18 years are included in the study with the prior permission of the concerned medical officer. The screening tool developed by the Ministry of health and family welfare, India, was used for the study. Among 26,423 cases, children with birth defects are 962, 2229 with deficiencies, 7516 with diseases, and 15716 with disabilities were admitted during the study period. From birth defects, congenital deafness occurred in large numbers with 22.66%, and neural tube defect observed in a small number of cases with 0.83% during the period. From the side of deficiencies, severe acute malnutrition has mostly occurred (66.80 %) and a small number of children were affected with goiter (1.70%). Among the diseases, dental carriers (67.97%) are mostly found and these cases were at peak during the years 2016 and 2019. From disabilities, children with vision impairment (20.55%) have mostly approached the center. Over the past 5 years, the admission rate of down's syndrome and congenital deafness cases showed a rising trend up to 2019 and then declined. Hearing impairment, motor delay, and learning disorder showed a steep rise and gradual decline trend, whereas severe anemia, vitamin-D deficiency, otitis media, reactive airway disease, and attention deficit hyperactivity disorder showed a declining trend. However, congenital heart diseases, dental caries, and vision impairment admission rates showed a zigzag pattern over the past 5 years. This center had inadequate diagnostic facilities related to genetic disease management. For advanced confirmation, the cases are referred to a district government hospital or private diagnostic laboratories in the city for genetic tests. Information regarding the overall burden and pattern of admissions in the health center is obtained by the review of DEIC records. Through this study, it is observed that the incidence of birth defects, as well as genetic disease burden, is high in the Visakhapatnam district. Hence there is a need for strengthening of management services for these diseases in this region.

Keywords: child health screening, developmental delays, district early intervention center, genetic disease management, infrastructural facility, Visakhapatnam district

Procedia PDF Downloads 175

Authors: Maria L. G. Lourenço, Keylla H. N. P. Pereira, Viviane Y. Hibaru, Fabiana F. Souza, Joao C. P. Ferreira, Simone B. Chiacchio, Luiz H. A. Machado

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Anasarca is generalized congenital edema that is often lethal. The condition is transmitted hereditarily and is autosomal dominant, with a racial predisposition in French Bulldogs and English Bulldogs. This study aims at reporting a case of anasarca treatment in neonates. The fetuses of a one year and six months old, primiparous English Bulldog mother were diagnosed with anasarca during an ultrasound examination performed at the 55th day of pregnancy and, therefore, an elective cesarean section was scheduled to prevent fetal dystocia. At birth, all puppies presented anasarca, and one of the six was stillborn. The newborns presented cyanosis, dyspnea, bradycardia, absent reflexes, low vitality scores (3/10), and hypothermia ( < 32ºC). The weight of the puppies at the time of birth varied between 347 and 373 grams, about 100 grams above the average weight estimated for the breed. Immediate neonatal care was applied with oxygen therapy via a mask, aminophylline (0.2 ml/100 g/PV/sublingual), and slow heating. After 10 minutes, there was a significant improvement in the neonatal parameters. The anasarca was treated with the drug furosemide, administered subcutaneously, at a dose of 0.2 mg per 100 grams of weight, every three hours. The stimulation for urination of newborns was performed every 30 minutes, and weight loss was monitored every 30 minutes. Five grams of potassium chloride were administered orally for every 30 grams of weight loss to counterbalance the loss of potassium caused by the diuretic medication. After 15 hours, the neonates reached the ideal weight for the breed, around 209 to 230 grams. In total, four neonates received five doses of furosemide, while one received six doses. The puppies are currently ten months old, healthy and neutered. Anasarca should not be ignored and is considered potentially lethal and an indication for euthanasia in all cases. Early intervention is of utmost importance for the survival of these patients.

Keywords: Walrus syndrome, congenital edema, water puppy syndrome, puppies

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Authors: Pulari C. Milu Maria Anto

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Background: Cognitive Rehabilitation/Retraining has been variously used in the research literature to represent non-pharmacological interventions that target the cognitive impairments with the goal of ameliorating cognitive function and functional behaviors to optimize the quality of life. Along with adult’s cognitive impairments, the need to address acquired cognitive impairments (due to any chronic illnesses like CHD - congenital heart diseases or ALL - Acute Lymphoblastic Leukemia) among child populations is inevitable. Also, it has to be emphasized as same we consider the cognitive impairments seen in the children having neurodevelopmental disorders. Methods: All published brain image studies (Hermann, B. et al,2002, Khalil, A. et al., 2004, Follin, C. et al, 2016, etc.) and studies emphasizing cognitive impairments in attention, memory, and/or executive function and behavioral aspects (Henkin, Y. et al,2007, Bellinger, D. C., & Newburger, J. W. (2010), Cheung, Y. T., et al,2016, that could be identified were reviewed. Based on a systematic review of the literature from (2000 -2021) different brain imaging studies, increased risk of neuropsychological and psychosocial impairments are briefly described. Clinical and research gap in the area is discussed. Results:30 papers, both Indian studies and foreign publications (Sage journals, Delhi psychiatry journal, Wiley Online Library, APA PsyNet, Springer, Elsevier, Developmental medicine, and child neurology), were identified. Conclusions: In India, a very limited number of brain imaging studies and neuropsychological studies have done by indicating the cognitive deficits of a child having or undergone chronic illness. None of the studies have emphasized the relevance nor the need of implementingCR among such children, even though its high time to address but still not established yet. The review of the current evidence is to bring out an insight among rehabilitation professionals in establishing a child specific CR and to publish new findings regarding the implementation of CR among such children. Also, this study will be an awareness on considering cognitive aspects of a child having acquired cognitive deficit (due to chronic illness), especially during their critical developmental period.

Keywords: cognitive rehabilitation, neuropsychological impairments, congenital heart diseases, acute lymphoblastic leukemia, epilepsy, and neuroplasticity

Procedia PDF Downloads 146

Authors: Saidasanov Saidazal Shokhmurodovich, Topolnickiy Orest Zinovyevich, Afaunova Olga Arturovna

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Relevance: Bilateral congenital cleft is one of the most complex forms of all clefts, which makes it difficult to choose a surgical method of treatment. During primary operations to close the hard and soft palate, there is a shortage of soft tissues and their lack during standard uranoplasty, and these factors aggravate the period of rehabilitation of patients. Materials and methods: The results of surgical treatment of children with bilateral cleft, who underwent uranoplasty using a flap from the tongue, were analyzed. The study used methods: clinical and statistical, which allowed us to solve the tasks, based on the principles of evidence-based medicine. Results and discussion: in our study, 15 patients were studied, who underwent surgical treatment in the following volume: uranoplasty using a flap from the tongue in two stages. Of these, 9 boys and 6 girls aged 2.5 to 6 years. The first stage was surgical treatment in the volume: veloplasty. The second stage was a surgical intervention in volume: uranoplasty using a flap from the tongue. In all patients, the width of the cleft ranged from 1.6-2.8 cm. All patients in this group were orthodontically prepared. Using this method, the surgeon can achieve the following results: maximum narrowing of the palatopharyngeal ring, long soft palate, complete closure of the hard palate, alveolar process, and the mucous membrane of the nasal cavity is also sutured, which creates good conditions for the next stage of osteoplastic surgery. Based on the result obtained, patients have positive results of working with a speech therapist. In all patients, the dynamics were positive without complications. Conclusions: Based on our observation, tongue flap uranoplasty is one of the effective techniques for patients with wide clefts of the hard and soft palate. The use of a flap from the tongue makes it possible to reduce the number of repeated reoperations and improve the quality of social adaptation of this group of patients, which is one of the important stages of rehabilitation. Upon completion of the stages of rehabilitation, all patients had the maximum improvement in functional, anatomical and social indicators.

Keywords: congenital cleft lips and palate, bilateral cleft, child surgery, maxillofacial surgery

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Authors: Lokvendra S. Budania, Yogesh K Gaude, Vamsidhar Chamala

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Introduction: Congenitally corrected transposition of great arteries (CCTGA) is a complex congenital heart disease where there are both atrioventricular and ventriculoarterial discordances, usually accompanied by other cardiovascular malformations. Case Report: A 24-year-old primigravida known case of CCTGA at 37 weeks of gestation was referred to our hospital for safe delivery. Her electrocardiogram showed HR-40/pm, echocardiography showed Ejection Fraction of 65% and CCTGA. Temporary pacemaker was inserted by cardiologist in catheterization laboratory, before giving trial of labour in view of complete heart block. She was planned for normal delivery, but emergency Caesarean section was planned due to non-reassuring foetal Cardiotocography Pre-op vitals showed PR-50 bpm with temporary pacemaker, Blood pressure-110/70 mmHg, SpO2-99% on room air. Nil per oral was inadequate. Patency of two peripheral IV cannula checked and left radial arterial line secured. Epidural Anaesthesia was planned, and catheter was placed at L2-L3. Test dose was given, Anaesthesia was provided with 5ml + 5ml of 2% Lignocaine with 25 mcg Fentanyl and further 2.5Ml of 0.5% Bupivacaine was given to achieve a sensory level of T6. Cesarean section was performed and baby was delivered. Cautery was avoided during this procedure. IV Oxytocin (15U) was added to 500 mL of ringer’s lactate. Hypotension was treated with phenylephrine boluses. Patient was shifted to post-operative care unit and later to high dependency unit for monitoring. Post op vitals remained stable. Temporary pacemaker was removed after 24 hours of surgery. Her post-operative period was uneventful and discharged from hospital. Conclusion: Rare congenital cardiac disorders require detail knowledge of pathophysiology and associated comorbidities with the disease. Meticulously planned and carefully titrated neuraxial techniques will be beneficial for such cases.

Keywords: congenitally corrected transposition of great arteries, complete heart block, emergency LSCS, epidural anaesthesia

Procedia PDF Downloads 96