Sonographic Prenatal Diagnosis of Ectrodactyly: A Case Study

Ectrodactyly, also known as split hand/split foot malformation, is a rare congenital disease defined as the absence or underdevelopment of the central digits with a median cleft of the hand or foot. It can be an isolated sonographic finding or associated with a syndrome. This case study describes isolated left-handed ectrodactyly diagnosed sonographically at 20 weeks gestation, during a routine anatomy sonogram. The patient had no family history of this condition, which demonstrates the importance of sonography for early diagnosis, counseling, and genetic testing options.

Nanobot: Artificial Intelligence, Drug Delivery and Diagnostic Approach

The design, construction, and programming of robots with overall dimensions of less than a few micrometres, as well as the programmable assembly of nanoscale items, are all part of nanorobotics. Nanobots are the next generation of medication delivery systems, as well as the ultimate nanoelectromechanical systems. Nano bioelectronics are used as the foundation for manufacturing integrated system devices with embedded nano biosensors and actuators in the nanorobot architectural paradigm, which aids in medical target identification and drug delivery. Nanotechnology advances have made it possible to create nanosensors and actuators using nano bioelectronics and biologically inspired devices. The creation of nanobots is fascinated by both top-down and bottom-up approaches. The qualities, method of synthesis, mechanism of action, element, and application of nanobots for the treatment of nervine disorders, wound healing, cancer diagnosis study, and congenital disease were highlighted in this review. This method gives you a lot of control over the situation and helps with sickness diagnosis.

A Combination of Generalized Linear Mixed Model and LASSO Methods for Estimating Number of Patients Covid 19 in the Intensive Care Units

Generalized linear mixed models (GLMM) combined with the L1 penalty (Least Absolute Shrinkage and Selection Operator/LASSO) is called LASSO GLMM. LASSO GLMM reduces overfitting and selects predictor variables in modeling. The aim of this study is to evaluate the model's performance for predicting Covid-19 patients with certain congenital disease that require ICU based on the results of blood tests laboratory and patient’s vital signs. This study used binary response variables, 1 if the patient was admitted to the ICU and 0 if the patient was not admitted to the ICU. The fixed effect predictor variables are the results of blood tests laboratory and patient’s vital signs. The random effect predictor variable is patient's congenital disease. The result showed that the average of accuracy and AUC from LASSO GLMM is more than the average of accuracy and AUC from LASSO GLM by using 5% level of significance. Respiratory rate and Lactate show a significance effect to predict the ICU needs of Covid-19 patients. The random effects patient's congenital disease has significance effect at 5% level of significance. It means that the ICU needs for Covid-19 patients varies among patient's congenital disease. We can conclude that GLMM LASSO with the random effect of patient’s congenital diseases has better modeling performance to predict the ICU needs of Covid-19 patients based on the results of blood tests laboratory and patient’s vital signs. The results of this modeling can quickly detect Covid-19 patients who need the ICU and can help medical staff use ICU resources optimally

Decreasing death rates and causes of death in Icelandic children—A longitudinal analysis

Background Global death rate in children has been declining during the last decades worldwide, especially in high income countries. This has been attributed to several factors, including improved prenatal and perinatal care, immunisations, infection management as well as progress in diagnosis and treatment of most diseases. However, there is certainly room for further progress. The aim of the current study was to describe the changes in death rates and causes of death in Iceland, a high-income country during almost half a century. Methods The Causes of Death Register at The Directorate of Health was used to identify all children under the age of 18 years in Iceland that died during the study period from January 1st, 1971 until December 31st, 2018. Using Icelandic national identification numbers, individuals could be identified for further information. Hospital records, laboratory results and post-mortem diagnosis could be accessed if cause of death was unclear. Findings Results showed a distinct decrease in death rates in children during the study period that was continuous over the whole period. This was established for almost all causes of death and in all age groups. This reduction was primarily attributed to a decrease in fatal accidents and fewer deaths due to infections, perinatal or congenital disease as well as malignancies, the reduction in death rates from other causes was less distinct. Childhood suicide rates remained constant. Interpretation Our results are encouraging for further prevention of childhood deaths. In addition, our results emphasise the need to improve measures to detect and treat mental and behavioural disorders leading to childhood suicide.

Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome

Prune belly syndrome (PBS) is a rare congenital disease that predominantly occurs in males and is identified by its classic triad of abdominal wall musculature deficiencies, cryptorchidism, and urinary tract abnormalities. However, numerous anomalies involving the kidneys, heart, lungs, and muscles have also been reported. A multitude of chromosomal abnormalities have been implicated in its pathogenesis. PBS can occur in association with trisomy 18 and 21. Gene duplications and deletions have also been reported; however, a definite cause of PBS is still unknown. We report the first PBS patient with a copy number variant in 16p11.2.

Case Report of a 33-year-old with Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy

Ebstein malformation of tricuspid valve is a congenital disease of tricuspid valve with associated right ventricular cardiomyopathy. Hypertrophic cardiomyopathy is a form of inherited left ventricular cardiomyopathy caused by sarcomeric protein gene mutations with inherent risks of sudden cardiac death. Here we report a rare case with co-occurrence of Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy in a young patient.

Generalized lymphatic anomalies and review of the current management landscape: a case report and review of the literature

Background Generalized lymphatic anomaly previously known as diffuse systemic lymphangiomatosis is a rare multisystem congenital disease arising from the lymphatic system, and it is characterized by abnormal proliferation of the lymphatic channels in osseous and extraosseous tissues. It typically affects children or young adults. Although it is benign, it can be misdiagnosed as malignancy because of its diffuse and debilitating nature depending on the site of involvement. Due to its rarity, diagnosis is often delayed, leading to potential significant morbidity or mortality if vital organs are involved. Furthermore, its potential for multiorgan involvement with no curative treatment makes its management challenging. Case presentation We describe a case of a 35-year-old Caucasian female, who presented with epigastric pain and was subsequently extensively investigated at multiple tertiary centers by numerous specialists for query malignancy and metabolic bone disorder following incidental computed tomography imaging findings of multiple osteolytic lesions in the axial skeleton, and low-attenuating lesions in the axilla, spleen, and mediastinum. The diagnosis was confirmed with an axillary excisional biopsy. She was clinically stable with no end organ damage. She was monitored conservatively. Conclusions The case illustrates the importance of increased awareness among clinicians for this rare congenital disease to enable earlier diagnosis and to avoid unnecessary invasive investigations. Furthermore, this case highlights the potential need for multiple biopsies of affected sites to confirm diagnosis. We also discuss the emergence of interferon therapy, chemotherapy, immunosuppression, and immunotherapy as medical management for this condition.

RUSSIA’S FIRST CLINICAL CASE OF A CHILD WITH MABRY’S SYNDROME (HYPERPHOSPHATASIA, MENTAL RETARDATION AND EPILEPSY) IN COMBINATION WITH HIRSCHSPRUNG’S DISEASE

The article presents a literature review of a rare congenital disease, hyperphosphatasia syndrome with mental retardation (Mabry's syndrome) in children. This syndrome is characterized by a triad of symptoms: hyperphosphatasia, epilepsy and mental retardation, often associated developmental defects. To date, 114 patients have been described. The review presents the available literary sources with clinical observations of patients since 1970, when the syndrome was first described by the pediatrician Ch. Mabry. The data on genetic defects leading to the disease are presented. The scheme of development of pyridoxine-sensitive epilepsy, the most severe manifestation of the syndrome, is described. The first clinical case of the patient with Mabry's syndrome in combination with Hirschsprung's disease in Russia is described.

Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease

The vertebrate Six (Sine oculis homeobox) family of homeodomain transcription factors play critical roles in the development of several organs. Six1 plays a central role in cranial placode development, including the precursor tissues of the inner ear, as well as other cranial sensory organs and the kidney. In humans, mutations in SIX1 underlie some cases of branchio-oto-renal syndrome (BOR), which is characterized by moderate to severe hearing loss. We utilized CRISPR/Cas9 technology to establish a six1 mutant line in Xenopus tropicalis that is available to the research community. We demonstrate that at larval stages, the six1-null animals show severe disruptions in gene expression of putative Six1 target genes in the otic vesicle, cranial ganglia, branchial arch and neural tube. At tadpole stages, six1-null animals display dysmorphic Meckel's, ceratohyal and otic capsule cartilage morphology. This mutant line will be of value for the study of the development of several organs as well as congenital syndromes that involve these tissues.