Background: Although multiple reports exist in the literature of patients with 15q11.2 deletion syndrome, the variability of the phenotype has made clinical delineation difficult. Neuro-developmental scores have not been previously reported. We present clinical findings in a group of 16 patients referred to our center for evaluation and management of neurodevelopmental difficulties. Methods: All patients were seen in our center between 2005 and 2016. They were seen by a clinical geneticist and their diagnosis of 15q11.2 deletion syndrome was confirmed by a microarray analysis. Bayley Scales of Infant Development was done and provided a mental developmental index and a motor developmental index. The data collected was then compared to previous reports in the literature of patients with 15q11.2 deletion syndrome. Results: The reviewed group consisted of 10 males and 6 female patients between the ages of 3 and 15 years. The most common clinical findings included developmental delay (94%), hypotonia (88%), ADHD (75%), anxiety (50%), feeding difficulties (44%), autism (31%), dolichocephaly (25%), 2-3 toe syndactyly (19%), seizure activity (19%), and congenital heart disease (13%). Additional findings included prominence of the metopic suture, epicanthal folds, micrognathia, ankle torsion, incontinence, and sleeping difficulties. Our developmental evaluation by the Bayley Scales of Infant Development indicated an average Mental Developmental Index of 75 (NL = >85) and Motor Developmental Index of 75 (NL = >85) in the patients less than 3 years old. Close to 43% of patients had an occipitofrontal circumference (OFC) greater than or equal to the 97th. Conclusion: The data provided here intends to expand the phenotype of the 15q11.2 deletion syndrome. Neurodevelopmental scores have not been previously reported in 15q11.2 del syndrome which were found to be in the mild developmental delay range.
Poultry feathers are rich in amino acids and keratin resources, which is a kind of protein feed raw materials with high nutritional value. A twin-screw extruder was designed to deal with the environmental damage caused by the shortage of rapidly developing protein feed and the large amount of feather waste in China’s livestock breeding industry. The bulking machine can break the disulfide bond and hydrogen bond in feather keratin to form crude protein which can be absorbed by livestock. A kind of high-protein feed feather powder was developed while protecting the environment. The combination mode and rotation direction between two screws are discussed, the relationship between the key basic parameters of the twin screw is derived by combining the motion principle of the twin screw and the relative geometric position. It provides theoretical basis for determining screw parameters and working condition parameters in the following experimental research.
The New Approaches Therapeutics That Complement Medicinal Therapy of Patients in Mental Health: an Analysis
Mental illnesses represent a challenge for healthcare worldwide. In Brazil, this reality is not different, with the Unified Health System (SUS) providing or improving the therapeutic treatment of patients assisted by public health policies, through the implementation of integrative and complementary practices in mental health patient therapy. Drug therapy associated with the increase in integrative practices contributes to improvements in the patient, in addition to promoting updates to the protocols and clinical guidelines that address pathologies of the mental nature. In this context, this chapter should analyze the main mental disorders, such as drug therapies used to treat these patients, as well as the use of integrative practices that complement the use of medications.
The term “autism spectrum disorder” (ASD) describes today a heterogeneous group of neurodevelopmental disorders with diverse etiologies. Autism spectrum disorder is obviously a neurodevelopmental disorder that seems to be a big challenge today for both: the family doctor and the pediatrician. The core of this disorder is mainly integrated by the patient’s communication and social interaction difficulties and by the presence of repetitive or restricted behaviors and / or interests. (AUGUSTYN, PATTERSON, TORCHIA, 2019 p. 1)1-10 Autistic Spectrum Disorder is a pervasive and permanent disorder. It has no cure, no especific treatment, and this must be clarified from the begining, however, early intervention can drastically alter prognosis and soften symptoms (SOCIEDADE BRASILEIRA DE PEDIATRIA, 2019) 1-10. To benefit from early intervention, the patient with autistic spectrum disorder needs an early diagnosis. The key to their better social integration is the time. It is obvious that children identified with risk for autism spectrum disorder should be referred to a specialist with the purpose to establishing the diagnosis. However, it is primarily up to the primary-care physician to identify children at risk through developmental follow-up, behavioral follow-up and eventually through a valid screening and clinical judgment. In fact, early, accurate and appropriate diagnosis usually requires a clinician with experience in diagnosis and treatment. However, the contribution of a multiprofessional team to assess key symptoms, functional impairment, severity, and comorbid conditions is very important. The management of this patient should be individualized according to the child’s age and specific needs. The primary care provider can refer the child to local consultants or the public school system for ancillary evaluations (speech language, cognitive and adaptive testing, psychoeducational testing) (AUGUSTYN, PATTERSON, TORCHIA, 2019 p. 2)1-10 The key to our attitude as professionals is continuous follow-up. And it needs to be done together with an expert…
Psychoanalysis and its application in the biological area. The area of Psychology already presents a lot of research in the context, looking for artificial and laboratory situations; however, the importance of contextual analysis of the individual as a whole, of their daily activities and, from this, the understanding of their perceptions. Through psychoanalysis it is possible to observe widely the subject as a whole, not focusing on the presence of organic or genetic disorders, Ansermet (2003) addresses this problem by stating that “We cannot see the subject only as someone who manifests an organic or mental defect, according to the logic of disability”. The systems that compose and organize the environment, according to Bronfenbrenner (1996), are constituted by the fitting of concentric structures called microsystem, what presents itself as the most active and direct contact environments, such as family, school or social work relationships; mesosystem referring to two or more environments of active social participation; exosystem, understood as environments that influence events that take place in the immediate environment of social relationship; and macrosystem, which comprise, in addition to the behavior of individuals, the connections between other people, the nature of bonds and the direct or indirect influence on the developing individual in the contexts in which they live and act actively. The use of psychoanalysis as a tool to decipher possible mental disorders has become essential, since it is intrinsically linked to the biological look for the diagnosis of a patient. Autism, attention deficit disorder, depression and hyperactivity (ADHD), among other diseases that can be diagnosed during childhood or late they are psychosocial disorders that have their diagnoses complemented by psychoanalysis. In this way, it is possible to perceive the challenges that psychoanalysis faces in terms of complementing the diagnosis of mental disorders in children, as well as the…
A severe case of toxic epidermal necrolysis which started with agep-like features: Does a new clinical type of drug eruption?
Acute generalized exanthematous pustulosis (AGEP) and toxic epidermal necrolysis (TEN) are adverse cutaneous reactions. Despite the fact that these 2 cutaneous reactions differ in presentation, prognosis, pathologic features, and treatment, overlap can exist between them, creating a diagnostic challenge. It has rarely been reported that AGEP overlaps or mimics TEN, while TEN which starting by multıple pustules like AGEP has not been reported. The present study reports a rare case of a 14-year-old male patient with the clinical manifestations of multiple purulent bullae caused by amoxycillin ingestion. On 3. day dermatological examination revealed flaccid bullae and epidermal splitting with positive Nikolsky’s sign on right pectoral area, erosions on oral and anogenital mucosa. Histopathologic examination showed a massive inflammatory infiltration and epidermal necrosis indicated Steven Johnson syndrome. Later on added systemic symptoms with haemodynamic, respiratory imbalance and the patient was exitus. The case is discussed to reveal whether a new clinical pattern of drug eruption has been identified. We describe a patient with TEN who presented initially with clinical features of acute generalized exanthematous pustulosis (AGEP). To the best of our knowledge, one report drug eruption with purulent bulla and epidermal necrolysis has previously been documented, and therefore the present study is the second case report of its kind. Because the initial presentation of such adverse drug reactions may vary, diagnosis is difficult and dermatologists must careful the possibility of mimics among adverse cutaneous reactions.
Obsessive Compulsive Disorder (OCD) is a disease that affects many psychopathological segments with the predominance of obsessive ideas or uncontrollable behaviors. Obsessions are presented as intrusive thoughts that cause increased anxiety; while compulsions present themselves as repetitive behaviors or mental acts aimed at minimizing anxiety. OCD was considered a very rare and poor prognosis, but with advances in scientific research, this concept is in the process of changing.
Medicinal plants have been used by the population since the beginning as a tool to prevent and fight diseases. In addition, to strengthening local culture and offering cheaper labor, this practice is an alternative to conventional therapies. The use of these plants in metabolic disorders has been studied worldwide. It has shown promising results in reducing glycemic levels and profiles related to diabetes, such as LDL lipid profile, total cholesterol, triglycerides, and glycated hemoglobin (HbA1c). These results can be potential sources for pharmacological treatments, through the production of medicines, as well as the implementation of these plants in the diet, dispensing with the use of commercialized drugs.
Relation between pregnant women and the Brazilian Unified Health System (SUS): Screening and diagnosis of GDM
The existence of a complex health system is capable of providing the necessary care for the mother and mother, but the levels of complexity of this treatment vary according to the need and severity of the situation in which the pregnant woman is ebcibtra. From this perspective, this chapter will address the relationship between pregnant women and the Brazilian Unified Health System, as well as the care and diagnosis of Gestational Diabetes Mellitus.
Understanding the physiology of the metabolic regulation of hormones responsible for glycemic control is of fundamental importance for a thorough understanding of Diabetes Mellitus. In this scenario, this chapter is intended to explain this regulation, as well as the main hormones that participate in this metabolic process.