Stress degree demonstrated in mothers with phenylketonuria or hyperphenylalaninemia infant when requested for total or partial breastfeeding replacement

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Kleopatra Schulpis ◽  
Kostas Iakovou
Keyword(s):  
Mental Retardation ◽  
Liver Enzyme ◽  
Metabolic Disorders ◽  
Psychological Support ◽  
Severe Stress ◽  
Hydroxylase Deficiency ◽  
Medical Food ◽  
Case Presentation ◽  
Stress Symptoms ◽  
Symptoms And Signs

Abstract Obejctives Phenylketonuria (PKU) and hyperphenylalaninemia (HPHE) are metabolic disorders of phenylalanine (phe) metabolism due to the liver enzyme phe hydroxylase deficiency resulting in mental retardation. The only treatment of these disorders is the total or the partial breastfeeding replacement with special formula, respectively. Case presentation We aimed to evaluate the maternal stress degree in the two groups of mothers and compare the stress degree between mothers who were obliged to replace breastfeeding completely with those who replaced it partially. Mothers (n=50) were divided into two groups: n=25 with PKU and n=25 with HPHE infants. Mothers with PKU newborns were obliged to replace breastfeeding completely and feed their newborns with a common formula plus phe free medical food, whereas mothers with HPHE infants partially replaced breastfeeding with phe free medical food. Stress degrees were calculated using special questionnaire checklist by Bourne E. Psychological support was provided for both groups of mothers with stress. Conclusions Most mothers with PKU infants experienced high or severe stress, whereas mothers with HPHE newborns suffered from low and moderate symptoms and signs of stress. After psychological support most mothers with PKU newborns were ameliorated from stress symptoms; mothers with HPHE neonates experienced almost no stress symptoms. Mothers with PKU infants obliged to complete breastfeeding replacement experienced high and/or severe stress degrees as compared to mothers with HPHE newborns with partial breastfeeding replacement. Psychological support resulted in amelioration of both tested groups.

Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress

2019 ◽  
Vol 32 (7) ◽  
pp. 791-795 ◽  
Author(s):  
Kleopatra Schulpis ◽  
Kostas Konstantinos Iakovou
Keyword(s):  
Maternal Stress ◽  
Psychological Support ◽  
Medical Food ◽  
Symptoms And Signs

Abstract Breastfeeding replacement is the only treatment for galactosemia (GAL) and phenylketonuria (PKU) during infancy. We aimed to evaluate the stress degree in mothers who were obliged to replace breastfeeding with special formulas as the only treatment for the diseased newborns. Thirty-two mothers with GAL newborns, 19 on breastfeeding only and 13 on breastfeeding plus formula, participated in this study. Additionally, 54 mothers with PKU infants, 32 offered breastfeeding only and 22 breastfeeding plus formula, participated in the study. Stress degree was evaluated in both groups: GAL and PKU. Mothers on breastfeeding only experienced the highest degree of stress than those who were on breastfeeding plus formula. After 1 month of psychological support, most mothers were ameliorated: mothers on breastfeeding only felt better as compared to those on breastfeeding plus formula. Conversely, in mothers on breastfeeding plus formulas, symptoms and signs of stress almost disappeared. In conclusion, GAL or PKU mothers with breastfeeding only experienced the highest degree of stress when asked for breastfeeding replacement. Psychological support made all the studied groups to feel better or free of symptoms and signs of stress.

CLINICAL CHALLENGES FOR ANESTHESIOLOGIST FACING PATIENT WITH ACROMEGALY. CASE REPORT

2020 ◽  
Vol 30 (3) ◽  
pp. 56-59
Author(s):  
Jūratė Gudaitytė ◽  
Justina Jermolajevaitė ◽  
Martynas Judickas
Keyword(s):  
Atrial Fibrillation ◽  
Case Report ◽  
General Population ◽  
Metabolic Disorders ◽  
Upper Airway ◽  
Cardiovascular Complications ◽  
Case Presentation ◽  
Increased Risk ◽  
Fluid Regulation ◽  
Class Iv

Background and objectives: Acromegaly is endocri­nal disorder which results in changes involving ge­neral appearance as well as upper airway abnorma­lities, cardiovascular and metabolic disorders which can aggravate the anesthesia and can lead to compli­cations. We aim to discuss the challenges for anesthe­siologist that occurs facing patient with acromegaly and are necessary to investigate before performing any kind of intervention. Case Presentation: 79 years old male patient presen­ted the hospital with recently diagnosed acromegaly for rectal prolapse surgery. From anamnesis he had NYHAIII with cardiomyopathy, atrial fibrillation and arterial hypertension, also multiple old compressive fractures Th10 – L5. He was graded with Mallam­pati score IV and ASA class IV. The complemen­tary examinations were made to assess the possible complications. In induction of general anesthesia the intubation was performed using fibro- bronchoscope and anesthesia went without complications except hypotension which was managed. After surgery the patient was leaded to the postoperative room for furt­her monitoring. Discussion and Conclusion: Acromegalic patients have an increased risk of difficulty during anesthe­sia compared to general population due to difficult intubation, cardiovascular complications , OSA , alte­ration in intraoperative glucose intolerance and fluid regulation. Therefore profound investigation and as­sessment are necessary to predict and prepare for possible difficulties in the surgery room.

ELECTROENCEPHALOGRAPHIC AND ETIOLOGIC FINDINGS IN MENTAL RETARDATION

PEDIATRICS ◽  
1963 ◽  
Vol 31 (3) ◽  
pp. 478-485
Author(s):  
Gerald D. LaVeck ◽  
Felix de la Cruz
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders ◽  
Mentally Retarded ◽  
Motor Dysfunction ◽  
Diagnostic Aid ◽  
Mentally Retarded Children ◽  
Mental Subnormality ◽  
Etiologic Diagnosis

A series of 578 institutionalized mentally retarded patients was evaluated by a multi-discipline approach in order to establish a presumptive etiologic diagnosis. Abnormal electroencephalographic findings were found to be related to the age of the patient, the severity of retardation, and the presence of seizures or motor dysfunction. In this series 65.9% had abnormal tracings, and the most frequent abnormality was a focal change in 18.7%. However, focal abnormalities correlated with seizures and motor dysfunction so that no specific electroencephalographic aberration was characteristic of mental subnormality. Abnormal tracings were most frequent in nonseizure patients when subnormality was caused by intoxication, new growths, metabolic disorders, infectious processes, trauma, and encephalopathy of unknown cause in decreasing order of frequency. Abnormalities were seen in 36.4% of "cultural-familial" defectives and those whose intellectual defect was presumably due to psychologic factors. It is believed that electroencephalography is a valuable diagnostic aid in the evaluation of mentally retarded children.

Oligophrenia associated with various pathogenesis

2020 ◽  
Vol 56 (07) ◽  
pp. 73-76
Author(s):  
Afat Afar Israfilova ◽  
Keyword(s):  
Mental Retardation ◽  
Key Words ◽  
Metabolic Disorders ◽  
Genetic Disorders ◽  
Physical Illness ◽  
The Body ◽  
Negative Effect

The causes of pathology are different. There are various inherited genetic disorders of the body, which are metabolic disorders, chromosome deficiency leads to various pathologies. Other factors have a negative effect on embryonic pathogenesis in the intrauterine stage. As a result, the baby does not develop properly in the womb. Key words: Pathology, physical illness, infection, mental retardation

scholarly journals Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Menglin Wang ◽  
Hao Wang ◽  
Haiying Zhao ◽  
Ling Li ◽  
Min Liu ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Gene Mutations ◽  
Autosomal Recessive Disorder ◽  
Chinese Han ◽  
Hydroxylase Deficiency ◽  
Case Presentation ◽  
Chinese Populations ◽  
Pathogenic Variants ◽  
Cytochrome P450 Family ◽  
Chinese Girls

Abstract Background 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds of pathogenic variants have been reported in this disorder, and some common mutations were found to be race-specific. Case presentation In this study, we reported 5 Chinese girls with 17α-hydroxylase deficiency from Henan Province. The patients all came to the hospital for hypertension, and they also presented with sexual infantilism. The average age of the patients was 14 years old, ranging from 12 to 17 years old. They all had reduced blood cortisol, estradiol (E2), and testosterone (TESTO) and increased adrenocorticotropic hormone (ACTH), follicle-stimulating hormone (FSH), and luteinizing hormone (LH). They all had the appearance of females; however, three of the chromosome karyotypes were 46XX, and two were 46XY. Conclusions All of the patients carried a mutation on the 329 amino acid of CYP17A1 exon 6. By summarizing the currently known pathogenic mutations of 17α-hydroxylase deficiency, we demonstrated the prevalence of these gene mutations in Chinese Han and non-Chinese populations.

Metabolic Disorders Leading to Mental Deficiency

1963 ◽  
Vol 9 (5) ◽  
pp. 566-572 ◽  
Author(s):  
J L Karlsson
Keyword(s):  
Mental Retardation ◽  
Organic Carbon ◽  
Metabolic Disorders ◽  
Organic Materials ◽  
Mental Deficiency ◽  
New Approach ◽  
Carbon And Nitrogen ◽  
Metabolic Basis ◽  
Mental Defect

Abstract A new approach is described for the detection of abnormal metabolites in the urine of patients with known or suspected metabolic disorders. Distribution curves are presented for nonurea organic carbon and nitrogen which form a basis for judging whether grossly abnormal amounts of organic materials are present in the urine. Families with recurrent mental retardation have been identified whose mental defect may be on an unknown metabolic basis.

scholarly journals Successful Management of a Complicated Mirror Syndrome: A Case Presentation

2019 ◽  
Author(s):  
Fatemeh Rahimi-Sharbaff ◽  
Nafiseh Saedi
Keyword(s):  
Conservative Treatment ◽  
Cesarean Section ◽  
Liver Enzyme ◽  
Twin Pregnancy ◽  
Successful Management ◽  
Fetal Hydrops ◽  
Case Presentation ◽  
Cesarean Section Delivery ◽  
Preeclamptic Patient ◽  
Fetal Infection

Mirror syndrome is a rare but serious condition of pregnancy characterized by fetal hydrops of any cause and maternal edema that has severe maternal and fetal morbidity and mortality. In most cases, the pregnancy should be terminated to resolve the symptoms. Some cases with mirror syndrome resolve spontaneously due to the demise of the hydropic fetus or fetal infection with parvovirus. This case is a rare complicated mirror syndrome that managed conservatively up to 34 weeks and 3 days of gestation. This case was a unique Dichorionic Diamniotic (DCDA) twin pregnancy with mirror syndrome, that feticide of the hydropic fetus has resolved symptoms of mirror syndrome. Although the mother’s liver enzyme increased after 3 weeks of feticide, we managed to save pregnancy by conservative treatment until 34 weeks and 3 days of gestation. Finally, the mother had a cesarean section delivery. The baby is now 6 months old with normal neurodevelopmental parameters. This case suggests that preeclampsia can happen after feticide due to twin pregnancy and the retained placenta. If we consider this event, we can manage pregnancy conservatively as a preeclamptic patient.

scholarly journals Psychological Impact of a Pandemic Widespread in Healthcare Workers: The Italian and Swiss Perspective Early After of CoVid-19 Outbreak

2020 ◽  
Author(s):  
Laura Uccella ◽  
Pietro Majno-Hurst ◽  
Sara Uccella ◽  
Luca Jacopo Pavan ◽  
Stefano Uccella ◽  
...  
Keyword(s):  
Healthcare Workers ◽  
Online Survey ◽  
Psychological Impact ◽  
Working Hours ◽  
Psychological Support ◽  
Public Hospitals ◽  
Professional Groups ◽  
Stress Symptoms ◽  
Care Workers ◽  
Short Time

Abstract Background. We investigated the COVID19-related psychological impact in healthcare workers three weeks after its onset in Italy and in Italian-speaking regions of Switzerland. All professional groups of public hospitals in Italy and Switzerland were asked to complete a 38 questions online survey investigating demographic, marital and working status, presence of stress symptoms and need for psychological support. Results. Within 38 hours a total of 3,038 responses were collected. The subgroup analysis identified specific categories at risk according to age, type of work and region of origin. Critical care workers, in particular females, reported an increased number of working hours, decline in confidence in the future, presence of stress symptoms and need for psychological support. People reporting stress symptoms and those with children declared a higher need for psychological support. Conclusions. The large number of participants in such a short time advocates for a high interest on topic among hospital workers. The COVID19 outbreak could have been and still be a repeated trauma for many health professionals, with risk of future psychiatric sequelae. It is of outstanding importance to implement short and long-term measures to mitigate impact of the emotional burden of this pandemic while at the same time dealing with its clinical challenges.

Immunotherapy Using HistobulinTM In Psoriasis: A Case Report

2021 ◽  
Author(s):  
Hyuk Soon Kim ◽  
Geunwoong Noh
Keyword(s):  
Allergic Rhinitis ◽  
Case Report ◽  
Skin Biopsy ◽  
Clinical Symptoms ◽  
Psoriasis Patient ◽  
Basic Research ◽  
Case Presentation ◽  
The Third ◽  
Skin Manifestations ◽  
Symptoms And Signs

Abstract Background: There is no cure for psoriasis. Early treatment using biologics is recommended to improve skin manifestations and reduce systemic inflammation, which leads to comorbidities in various organs.Case Presentation: HistobulinTM therapy was performed on a psoriasis patient who developed the disorder due to allergic rhinitis. Psoriasis was confirmed pathologically by skin biopsy. The patient responded rapidly, and the skin manifestations began to improve after just the first injection. Although the patient showed some temporary aggravation after the third injection, the clinical symptoms and signs improved continuously thereafter and disappeared after the eighth injection. Remission was induced and was evident when the patient showed no symptoms and signs during the subsequent 4 weeks during which time the patient received 4 more injections; afterwards, HistobulinTM therapy was ceased. After treatment, psoriasis did not recur for more than 6 months.Conclusions: HistobulinTM is effective and induces remission in psoriasis patients. HistobulinTM is suggested for curative therapeutics in psoriasis patients, and further basic research and clinical evaluation are necessary.

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