scholarly journals When does schizophrenia really begin? - A case report confirming the neurodevelopmental theory of schizophrenia

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Julita Szarpak ◽  
Karol Ciejka ◽  
Weronika Perczyńska ◽  
Michał Flis ◽  
Paulina Wróbel-Knybel
Keyword(s):  
Case Report ◽  
Environmental Factors ◽  
Junior High School ◽  
Clinical Case ◽  
Paranoid Schizophrenia ◽  
Postnatal Period ◽  
Psychomotor Development ◽  
Perinatal Complications ◽  
Post Secondary ◽  
Increased Risk

Abstract Introduction: According to the neurodevelopmental theory, schizophrenia is a cognitive-behavioral manifestation of the non-physiological development of the CNS, which was caused by the interaction of genetic and environmental factors during its formation. Aim, material and methodology: The aim of this article is to present a clinical case in which exposure to numerous adverse environmental factors in the pre and postnatal period could cause the development of schizophrenia in adulthood. The analysis of the clinical case and the medical records of a patient diagnosed with paranoid schizophrenia, suffering from numerous perinatal complications, was performed. Case report: A woman, 23 years old, unmarried, studying at post-secondary school - archivistics. Currently, psychiatrically hospitalized for the second time. A patient from the first, twin, fraternal pregnancy. The delivery took place by caesarean section, complicated. In the APGAR scale, she scored 4 points in the 1st minute, and 6 points in the 3rd minute. By day 30, the patient had experienced preterm retinopathy, viral infection, salmonella, jaundice and anemia. In the second month of her life, she was treated with surgery due to intestinal obstruction. Psychomotor development was disturbed. At 9 years of age, there was a retinal detachment. Until the end of junior high school, she was educated in a special school for the visually impaired. Conclusions: The neurodevelopmental theory assumes that the increased risk of developing schizophrenia is associated with unfavorable factors in the developmental period. Identifying the causes underlying the development of the disease is a key step towards prevention, more efficient diagnosis, and improvement of the effectiveness of treatment of patients suffering from this disease.

scholarly journals Clinical Case of Pregnancy and Follow-Up of Bartter Syndrome (Type II) with a Novel Mutation

2020 ◽  
pp. 1-5
Author(s):  
Laura Lūse ◽  
Anna Miskova ◽  
Dace Rezeberga ◽  
Gita Jansone ◽  
Kristīne Rasnača ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Clinical Course ◽  
Novel Mutation ◽  
Bartter Syndrome ◽  
Psychomotor Development ◽  
Syndrome Type ◽  
Type Ii ◽  
Present Case Report ◽  
Normal Ranges

Background: Bartter syndrome is a rare autosomal recessive inherited salt wasting tubulopathy, it`s incidence proportion is 1.2 cases per 1.000.000 live births. The present case - report discusses a clinical case of an antenatal Bartter syndrome (type II) with a novel mutation and it`s course from antenatal presentation to 6 months postpartum. Case Presentation: The case-report discusses a clinical case of an antenatal Bartter syndrome (type II) with a novel homozygous missense variant mutation in KCNJ1 gene: c.554C>T (p. Pro185Leu). Symptoms presented from 24 weeks of pregnancy as premature labour threats, maternal dyspnoea and severe polyhydramnios (amniotic fluid index 36 cm). Therapeutic interventions included use of indomethacin, dexamethasone, micronized progesterone and three consequent amnioreductions. Pregnancy was prolonged until 32 weeks and induced due to severe reoccurring polyhydramnios, progressing maternal dyspnoea and inability to perform next amnioreduction. Labour was complicated by severe placental abruption and new born – boy was referred to neonatal intensive care unit. Neonatal period was complicated by electrolyte abnormalities: hyponatremia, hypochloremic metabolic alkalosis, transient hyperkalaemia that gradually developed into hypokalaemia, hypercalcemia and elevated rennin and aldosterone levels characteristic to type II Bartter syndrome. At 6 months (corrected age 4 months) he is gaining weight within normal ranges and his psychomotor development is ahead of his corrected age, without any need for daily medications. Conclusion: The present case report describes the clinical course of a Bartter syndrome is of high importance, due to the reason that it shows clinical course of patient with novel mutation and offers one of the ways how to manage the disease. The described novel mutation may have favourable prognosis for neonate. The pregnancy should be managed as high-risk pregnancy with expertise in perinatal diagnostics and interventions. Early recognition, and interventions, are and essential to prolong a pregnancy and lessen prematurity complications.

scholarly journals RARE-60. PREGNANCIES AFTER CHILDHOOD CRANIOPHARYNGIOMA – RESULTS OF KRANIOPHARYNGEOM 2000/2007

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii455-iii455
Author(s):  
Panjarat Sowithayasakul ◽  
Svenja Boekhoff ◽  
Brigitte Bison ◽  
Hermann L Müller
Keyword(s):  
Postnatal Period ◽  
Close Monitoring ◽  
Perinatal Complications ◽  
Childhood Onset ◽  
Increased Risk ◽  
Gestational Age At Delivery ◽  
Reproductive Techniques ◽  
Patients At Risk ◽  
Postoperative Irradiation ◽  
Median Birth Weight

Abstract BACKGROUND Data on female fertility, pregnancy, and outcome of offspring after childhood-onset craniopharyngioma (CP) are rare. STUDY DESIGN Observational study on pregnancy rate and offspring outcome in female CP patients recruited in KRANIOPHARYNGEOM 2000/2007. RESULTS A total of 451 CP patients (223 female) have been recruited, and 269 (133 female) were postpubertal at study. Six of 133 female CP patients (4.5%) with median age of 14.9 years at CP diagnosis had 9 pregnancies, giving birth to 10 newborns. Three patients achieved complete surgical resections. No patient underwent postoperative irradiation. Five natural pregnancies occurred in 3 CP patients without pituitary deficiencies. Four pregnancies in 3 CP patients with hypopituitarism were achieved under assisted reproductive techniques (ART) (median 4.5 cycles, range: 3–6 cycles). Median maternal age at pregnancy was 30 years (range: 22–41 years). Six babies (60%) were delivered by caesarean section. Median gestational age at delivery was 38 weeks (range: 34–43 weeks); median birth weight was 2,920 g (range: 2,270– 3,520 g), the rate of preterm delivery was 33%. Enlargements of CP cysts occurred in 2 women during pregnancy. Other complications during pregnancy, delivery, and postnatal period were not observed. CONCLUSIONS Pregnancies after CP are rare and were only achieved after ART in patients with hypopituitarism. Close monitoring by an experienced reproductive physician is necessary. Due to a potentially increased risk for cystic enlargement, clinical, ophthalmological, and MRI monitoring are recommended in patients at risk. Perinatal complications, birth defects, and morbidity of mothers and offspring were not observed.

scholarly journals Pregnancies after Childhood Craniopharyngioma: Results of KRANIOPHARYNGEOM 2000/2007 and Review of the Literature

2020 ◽  
Vol 111 (1-2) ◽  
pp. 16-26
Author(s):  
Panjarat Sowithayasakul ◽  
Svenja Boekhoff ◽  
Brigitte Bison ◽  
Hermann L. Müller
Keyword(s):  
Postnatal Period ◽  
Close Monitoring ◽  
Perinatal Complications ◽  
Childhood Onset ◽  
Increased Risk ◽  
Gestational Age At Delivery ◽  
Reproductive Techniques ◽  
Patients At Risk ◽  
Postoperative Irradiation ◽  
Median Birth Weight

<b><i>Background:</i></b> Data on female fertility, pregnancy, and outcome of offspring after childhood-onset craniopharyngioma (CP) are rare. <b><i>Study Design:</i></b> Observational study on pregnancy rate and offspring outcome in female CP patients recruited in KRANIOPHARYNGEOM 2000/2007 since 2000. <b><i>Results:</i></b> A total of 451 CP patients (223 female) have been recruited, and 269 (133 female) were postpubertal at study. Six of 133 female CP patients (4.5%) with a median age of 14.9 years at CP diagnosis had 9 pregnancies, giving birth to 10 newborns. Three patients achieved complete surgical resections. No patient underwent postoperative irradiation. Five natural pregnancies occurred in 3 CP patients without pituitary deficiencies. Four pregnancies in 3 CP patients with hypopituitarism were achieved under assisted reproductive techniques (ART) (median 4.5 cycles, range: 3–6 cycles). Median maternal age at pregnancy was 30 years (range: 22–41 years). Six babies (60%) were delivered by caesarean section. Median gestational age at delivery was 38 weeks (range: 34–43 weeks); median birth weight was 2,920 g (range: 2,270–3,520 g), the rate of preterm delivery was 33%. Enlargements of CP cysts occurred in 2 women during pregnancy. Other complications during pregnancy, delivery, and postnatal period were not observed. <b><i>Conclusions:</i></b> Pregnancies after CP are rare and were only achieved after ART in patients with hypopituitarism. Close monitoring by an experienced reproductive physician is necessary. Due to a potentially increased risk for cystic enlargement, clinical, ophthalmological, and MRI monitoring are recommended in patients at risk. Severe perinatal complications, birth defects, and postnatal morbidity of mothers and offspring were not observed.

Clinical Case Report: Manifestation of Hereditary Neuralgic Amyotrophy in Childhood

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
L. Voges ◽  
G. Stettner ◽  
D. Weise ◽  
K. Brockmann ◽  
J. Gärtner ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Neuralgic Amyotrophy

GH/TSH secreting adenoma: a clinical case report: GH/TSH secreting adenoma: a clinical case report

2018 ◽  
Author(s):  
Tatiana Tarasova ◽  
Alexander Lutsenko ◽  
Elena Przhiyalkovskaya ◽  
Ekaterina Pigarova ◽  
Larisa Dzeranova ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case

Designing Smile of a Worn Out Dentition - a Clinical Case Report

2012 ◽  
Vol 2 (5) ◽  
pp. 415-417
Author(s):  
Dr. Bansi M Bhusari ◽  
◽  
Dr. Shruti Sura ◽  
Dr. Kalpan Desai ◽  
Dr. Ridhima Mahajan
Keyword(s):  
Case Report ◽  
Clinical Case

Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

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