scholarly journals Central Nervous System Birth Defects in Surgically Treated Infants in Sarajevo Region of Bosnia and Herzegovina

2007 ◽  
Vol 7 (4) ◽  
pp. 294-300 ◽  
Author(s):  
Selma Aličelebić ◽  
Alma Arslanagić ◽  
Zakira Mornjaković
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Spina Bifida ◽  
Bosnia And Herzegovina ◽  
Birth Defects ◽  
Arachnoid Cyst ◽  
Congenital Anomalies ◽  
Organ Systems ◽  
Pes Equinovarus ◽  
Clinical Records

Congenital anomalies of the central nervous system (CNS) are common. The prevalence of these anomalies shows considerable geographical variation and female predominance. The aim of this work was to obtain the frequency of different CNS congenital anomalies types and their sex distribution among cases hospitalized in a Department of Neurosurgery, University of Sarajevo Clinics Center, Bosnia and Herzegovina, during the period January 2001 to December 2004. Retrospective study was carried out on the basis of the clinical records. Standard methods of descriptive statistics were performed for the data analysis. A total of 103 cases were surgically treated in the period from 2001 through 2004. Out of that number 56 (54,4%) were female patients, while 47 (46,6%) were male patients. Seven different CNS birth defect types were found in this investigation. These were: spina bifida (42 cases or 40,78%), congenital hydrocephalus (35 cases or 33,98%), arachnoid cyst (15 cases or 14,56%), Dandy-Walker syndrome (5 cases or 4,85%), dermoid cyst (4 cases or 3,88%), one of Arnold-Chiari syndrome (0,98%) and one of encefalocele (0,98%). According to this investigation, CNS congenital birth defects were slightly higher in females (54,4%). The most frequent types were spina bifida (40,78%) both in females (22,33%) and in males (18,45%), hydrocephalus (33,98%) and arachnoid cyst (14,56%). The anomalies of the other organ systems, associated with CNS anomalies obtained in this investigation, were pes equinovarus, cheiloshisis, cardiomegalia and palatoshisis. They were found in six cases (5,82%), equal in both sexes.

scholarly journals Prevalence and Pattern of Birth Defects in a Tertiary Referral Center

2021 ◽  
Vol 10 (1) ◽  
pp. 20-24
Author(s):  
Munjal Yadav ◽  
Shanti Subedi
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Folic Acid ◽  
Birth Defects ◽  
Congenital Anomalies ◽  
Mode Of Delivery ◽  
College Teaching ◽  
Consanguineous Marriage ◽  
Major Health Problem ◽  
History Of

Background: Congenital disorders (birth defects) are structural or functional abnormalities, which are present from birth, whether recognized at birth or later and constitute a major health problem worldwide.  Congenital anomalies occur in 3 to 5 % of all pregnancies and 2 to 3 % of all births. The exact magnitude of birth defect related events is still unrevealed. Prevalence is high in Nepal but true magnitude is still unknown. Materials and Methods: This is a prospective cross sectional study of all antenatal women who had an ultrasound revealing congenital anomalies as well who delivered with a fetal congenital malformation at department of Obstetrics and Gynecology, Nobel Medical College Teaching Hospital. Maternal variables like age, parity, period of gestation at detection, medical history, mode of delivery and complications were recorded. Fetal outcomes and details of anomalies were analyzed. Consanguinity and history of use of folic acid was also inquired. Results: Our institutional prevalence of congenital anomalies was 1.25%. The mean age of the mother is 25.88 years. Anencephaly was seen in 5 live birth among the mothers of consanguineous marriage. The predominant system involved was central nervous system 37(37%) followed by Musculoskeletal system 13 (13%). Most of them 38/56 (68%) were pre diagnosed by antenatal ultrasound only in the third trimester. Majority of them didn’t give history of the use of folic acid. Vaginal delivery was the preferred choice of the termination of pregnancy. Conclusion: Congenital anomaly rate was 1.25% and Central Nervous System was the predominant system involved with Anencephaly being common in consanguineous marriage.

scholarly journals Congenital anomalies: Occurrence and potential risk factors

2020 ◽  
Vol 77 (3) ◽  
pp. 317-323
Author(s):  
Ivan Pavlovic ◽  
Darko Plecas ◽  
Snezana Plesinac ◽  
Jelena Dotlic ◽  
Nemanja Stojanovic
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pregnant Women ◽  
Congenital Anomalies ◽  
Diagnostic Methods ◽  
Fetal Anomalies ◽  
Tertiary Referral Center ◽  
Organ Systems ◽  
Increased Risk ◽  
Fetal Malformations

Background/Aim: Congenital malformations still represent one of the most important causes of prenatal and infant death. The study goal was to analyze occurrence and outcomes of different types of congenital anomalies from the tertiary referral center during a ten-year period. Moreover, study aimed at examining potential predictors of congenital anomalies based on patients? characteristics and medical history data. Methods: Study included all pregnant women directed to Clinic of Obstetrics and Gynecology Clinical Center of Serbia due to prenatally diagnosed congenital fetal anomalies during past ten years. Upon admission to our clinic a detailed general medical and obstetrical history were taken from every patient. All women underwent genetic testing. Ultrasonography and magnetic resonance were diagnostic methods for fetal malformations confirmation. Results: Study included 773 pregnant women aged from 18 to 46 years. Out of registered nine different groups of fetal anomalies/malformations, the most common were malformations of the central nervous system, while majority of fetuses had combined multiple anomalies. Genetic cause for congenital anomalies was present in 25.2% of pregnancies. Medical pregnancy abortion was performed in 71.8% of cases. Only 10.2% of pregnancies ended in term. The best outcome for children was obtained in case of gastrointestinal anomalies (52% live-born). Contrary only one child with neck and thorax malformations could be saved. According to logistic regression the most important predictor of having a child with combined multiple anomalies was mother?s age, while predictor of central nervous system anomalies was gestational diabetes. The significant predictor of genetic anomalies was mother?s age. Conclusion: In our sample neurological congenital anomalies were the most common, although abnormalities of all organ systems were registered. Majority of pregnancies had to be discontinued due to combined multiple anomalies caused by genetic disorders. Older mother?s age and diabetes can imply on the increased risk for fetal malformations.

scholarly journals Antioxidant and cytotoxic activities of curly dock (Rumex crispus L., Polygonaceae) fruit extract

2020 ◽  
Vol 77 (3) ◽  
pp. 308-316
Author(s):  
Tatjana Cebovic ◽  
Dunja Jakovljevic ◽  
Zoran Maksimovic ◽  
Snezana Djordjevic ◽  
Sanja Jakovljevic ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pregnant Women ◽  
Congenital Anomalies ◽  
Diagnostic Methods ◽  
Cytotoxic Activities ◽  
Fetal Anomalies ◽  
Organ Systems ◽  
Increased Risk ◽  
Fetal Malformations

Background/Aim. Congenital malformations still represent one of the most important causes of prenatal and infant death. The study aim was to analyze occurrence, outcomes and risk factors of different types of congenital anomalies. Methods. The study included all pregnant women directed to Clinic of Obstetrics and Gynecology, Clinical Center of Serbia, Belgrade due to prenatally diagnosed congenital fetal anomalies during past ten years (January 1, 2008?December 31, 2017). Upon admission to our Clinic a detailed general medical and obstetrical history were taken from every patient. All women underwent genetic testing. Ultrasonography and magnetic resonance were diagnostic methods for fetal malformations confirmation. Results. The study included 773 pregnant women aged from 18 to 46 years. Out of registered nine different groups of fetal anomalies/malformations, the most common were malformations of the central nervous system, while majority of fetuses had combined multiple anomalies. Genetic cause for congenital anomalies was present in 25.2% of pregnancies. Medical pregnancy abortion was performed in 71.8% of cases. Only 10.2% of pregnancies ended in term. The best outcome for children was obtained in case of gastrointestinal anomalies (52% live born). Contrary, only one child with neck and thorax malformations could be saved. According to logistic regression the most important predictor of having a child with combined multiple anomalies was mother?s age, while predictor of central nervous system anomalies was gestational diabetes. The significant predictor of genetic anomalies was mother?s age. Conclusion. In our sample neurological congenital anomalies were the most common, although abnormalities of all organ systems were registered. Majority of pregnancies had to be discontinued due to combined multiple anomalies caused by genetic disorders. Older mother?s age and diabetes can imply on the increased risk for fetal malformations.

scholarly journals The Spectrum of Congenital Central Nervous System Anomalies Among Stillborn: An Autopsy Based Study

2021 ◽  
pp. 097275312199016
Author(s):  
S. P. Vinutha ◽  
D. Narayanappa ◽  
G. V. Manjunath ◽  
M. S. Sujatha ◽  
M. C. Sapna Patel ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Congenital Anomalies ◽  
Developmental Process ◽  
Holistic Approach ◽  
Fetal Autopsy ◽  
Exact Test ◽  
Medical College ◽  
Ultrasound Findings ◽  
Cns Anomalies

Background: Congenital central nervous system (CNS) anomalies are the structural or functional abnormalities of the brain and spinal cord that occur during the intrauterine developmental process. Purpose: The present study aims to detect the prevalence of congenital CNS anomalies among stillborn fetuses, the association between congenital anomalies and maternal factors, and also the association between autopsy and ultrasound findings. Methods: This study was conducted on 50 stillborn fetuses, obtained from the Department of Obstetrics and Gynecology at JSS Medical College and Hospital, Mysuru. The fetuses were fixed in 10% formalin and autopsies were performed as per the standard fetal autopsy protocol. The congenital CNS anomalies were studied in detail. Results: CNS anomalies were the most common congenital anomalies observed. Out of the total 50 stillborn fetuses studied, CNS anomalies were found in 17 fetuses and their occurrence was more common among male stillborn than females. Meningomyelocele was the most common anomaly, followed by anencephaly. The other anomalies documented were meningocele, encephalocele, meningoencephalocele, agenesis of the corpus callosum, craniorachischisis, bifid cerebellum with hypoplastic vermis, holoprosencephaly, and sirenomelia. Fisher’s exact test showed a significant association between maternal hypothyroidism and congenital CNS anomalies ( P < .05). The autopsy confirmed the ultrasound findings in 40 (80%) fetuses. There were significant additional findings observed in seven (14%) fetal autopsies and ultrasound diagnosis completely changed in three (6%) cases, after the final autopsy procedure. Conclusion: The fetal autopsy is the single most directly evident investigation, which gives information that changes or significantly improves the clinical diagnosis. A multidisciplinary holistic approach toward pregnancy will help to detect any kind of abnormality in the fetus and thus to take a timely decision toward the management.

THE FAMILY HISTORY OF SPINA BIFIDA CYSTICA

PEDIATRICS ◽  
1965 ◽  
Vol 35 (4) ◽  
pp. 589-595
Author(s):  
John Lorber
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Spina Bifida ◽  
Index Case ◽  
Progressive Increase ◽  
Point Of View ◽  
The Family ◽  
History Of ◽  
The Central Nervous System ◽  
Spina Bifida Cystica

1. The family histories of 722 infants who were born with spina bifida cystica were studied. 2. The index cases were referred for surgical treatment and were not selected in any way from the genetic point of view. 3. Intensive inquiries were made to obtain a complete family pedigree, including a prospective follow-up of siblings born after the index case. 4. Of 1,256 siblings 85 or 6.8% had gross malformation of the central nervous system: spina bifida cystica in 54, anencephaly in 22, and uncomplicated hydrocephalus in 9. 5. Of 306 children born after the index case 25 (8%) or 1 in 12 were affected. 6. There was a progressive increase in multiple cases in the family with increasing family size. In sibships of five or more, multiple cases occurred in 24.1%. 7. In 118 families cases of gross malformation of the central nervous system were known to have occurred among members of the family other than siblings. Cases occurred in three generations. 8. It is possible that spina bifida cystica might be a recessively inherited condition.

scholarly journals Tuberin levels during cellular differentiation in brain development

2021 ◽  
Author(s):  
Bashaer Abu Khatir ◽  
Gordon Omar Davis ◽  
Mariam Sameem ◽  
Rutu Patel ◽  
Jackie Fong ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Development ◽  
Cell Lines ◽  
Neural Development ◽  
Time Course ◽  
Embryonic Mouse ◽  
Organ Systems ◽  
The Central Nervous System

Tuberin is a member of a large protein complex, Tuberous Sclerosis Complex, and acts as a sensor for nutrient status regulating protein synthesis and cell cycle progression. Mutations in the Tuberin gene, TSC2, lead to the formation of tumors and developmental defects in many organ systems, including the central nervous system. Tuberin is expressed in the brain throughout development and levels of Tuberin have been found to decrease during neuronal differentiation in cell lines in vitro. Our current work investigates the levels of Tuberin at two stages of embryonic development in vivo, and we study the mRNA and protein levels during a time course using immortalized cell lines in vitro. Our results show that Tuberin levels remain stable in the olfactory bulb but decrease in the Purkinje cell layer during embryonic mouse brain development. We show here that Tuberin levels are higher when cells are cultured as neurospheres, and knockdown of Tuberin results in a reduction in the number of neurospheres. These data provide support for the hypothesis that Tuberin is an important regulator of stemness and the reduction of Tuberin levels might support functional differentiation in the central nervous system. Understanding how Tuberin expression is regulated throughout neural development is essential to fully comprehend the role of this protein in several developmental and neural pathologies.

Desmoplastic Medulloblastoma Metastatic to the Pancreas: Case Report

Neurosurgery ◽  
1991 ◽  
Vol 29 (4) ◽  
pp. 612-616 ◽  
Author(s):  
Hendrikus G.J. Krouwer ◽  
John Vollmerhausen ◽  
Joel White ◽  
Michael D. Prados
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Soft Tissues ◽  
Extraneural Metastases ◽  
Organ Systems ◽  
Multidrug Chemotherapy ◽  
The Central Nervous System ◽  
Desmoplastic Medulloblastoma ◽  
Local Radiation ◽  
Weiss Criteria

Abstract A case is reported in which a desmoplastic medulloblastoma metastasized to the pancreas and to the surrounding soft tissues but did not recur locally or disseminate within the central nervous system. Multidrug chemotherapy and local radiation therapy resulted in a complete remission. In all four previously reported cases of medulloblastoma metastasizing to the pancreas, the diagnosis was not made until the postmortem examination, and all of these patients also had extensive metastases in other organ systems. Modification of the Weiss criteria defining extraneural metastases from tumors of the central nervous system is suggested.

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