scholarly journals Symmetrical Central Tegmental Tract Hyperintensity on T2-weighted Images in Pediatrics: A Systematic Review

2018 ◽  
Vol 1 (1) ◽  
pp. 85-93
Author(s):  
Carlo Augusto Mallio ◽  
Johan Van Goethem ◽  
Timo De Bondt ◽  
Luc van den Hauwe ◽  
Bruno Beomonte Zobel ◽  
...  
Keyword(s):  
Developmental Process ◽  
Case Reports ◽  
Brain Mri ◽  
Glutaric Aciduria Type ◽  
Current Evidence ◽  
P Value ◽  
Chi Square ◽  
Glutaric Aciduria Type 1 ◽  
Central Tegmental Tract ◽  
Non Gaussian

AbstractPurpose: The aim of the present study is to provide a systematic literature review of the current evidence about the Central Tegmental Tract Hyperintensity (CTTH).Methods: The literature search was performed on December 2017 using Medline PubMed, Google Scholar and Cochrane Central databases. Statistical analysis was performed using Kolmogorov-Smirnov, chi-square and the Mann-Whitney U tests.Results: Twenty publications were included. Of these, 11 were retrospective studies and 9 were case reports. In total, CTTH was reported in 226 cases. The age parameter showed a significantly non-Gaussian distribution (KS test; p-value < 0.001). The median age was 1,83 years (range: 7 days – 21 years; P25 = 1.00 year, P75 = 3.00 years; IQR = 2 years). The two most common clinical conditions associated to CTTH were cerebral palsy (51 cases; 22.6%) and glutaric aciduria type 1 (50 cases; 22.10%). CTTH was often found in the absence of other concomitant brain MRI abnormalities (32 cases; 21.8%).Conclusions: CTTH is an uncommon neuroimaging finding that is mainly related to the acquisition\improvement of a physiologicalmotor developmental process. The finding is influenced by hypoxic ischemic and toxic?metabolic factors. Data regarding DWI and follow-up are largely unreported and deserve to be further explored.

scholarly journals A Comprehensive Systemic Literature review of Pericardial Decompression Syndrome: Often Unrecognized and Potentially Fatal Syndrome

2020 ◽  
Vol 16 ◽  
Author(s):  
Ahmed Amro ◽  
Kanaan Mansoor ◽  
Mohammad Amro ◽  
Amal Sobeih ◽  
Mohamed Suliman ◽  
...  
Keyword(s):  
Ejection Fraction ◽  
Early Recognition ◽  
Case Reports ◽  
Case Series ◽  
Rare Condition ◽  
Continuous Variable ◽  
P Value ◽  
Chi Square ◽  
Therapeutic Modalities ◽  
Hemodynamic Deterioration

Background: Pericardial Decompression Syndrome (PDS) is defined as paradoxical hemodynamic deterioration and/or pulmonary edema, commonly associated with ventricular dysfunction. This phenomenon was first described by Vandyke in 1983. PDS is a rare but formidable complication of pericardiocentesis which if not managed appropriately is fatal. PDS as an entity has dispersed literature; this review is to understand its epidemiology, presentation, and management. Methodology: Medline: Science Direct and Google Scholar databases were utilized to do a systemic literature search. PRISMA protocol was employed. Abstracts, case reports, case series and clinical studies were identified since 1983 to 2019. A total of 6508 articles were reviewed out of which 210 were short listed, after removal of duplicates 49 manuscripts were included in this review. For Statistical analysis, patient data was tabulated in SPSS version 20. Cases were divided into two categories surgical and percutaneous groups. T test was done for continuous variable and chi square test was done for categorical data was used for analysis. Results: A total of 42 full length case reports, 2 poster abstracts, 3 case series of 2 patients , 1 case series of 4 patient s and 1 case series of 5 patients were included in the study. A total of 59 cases were included in this manuscript. Our data had 45.8% (n=27) males and 54.2% (n=32) females. The mean age of patients was 48.04 ± 17 years. Pericardiocentesis was performed in 52.5% (n=31) cases, Pericardiostomy was performed in 45.8% (n=27). The most common identifiable cause pericardial effusion was found to be malignancy in 35.6% (n=21). 23 cases reported pre-procedural ejection fraction which ranged from 20%-75% with a mean of 55.8 ± 14.6%, while 26 cases reported post procedural ejection fraction which ranged from 10%-65% with a mean of 30% ± 15.1%. Data was further divided into two categories namely, pericardiocentesis and pericardiostomy. The outcome as death was significant in the pericardiostomy arm with a p-value of < 0.00. Use of inotropic agents for the treatment of PDS was more common in needle pericardiocentesis with a p-value of 0.04. Lastly, the computed recovery time did not yield any significance with a p-value of 0.275. Conclusion: Pericardial decompression syndrome is a rare condition with high mortality. Operators performing pericardial drainage should be aware of this complication following drainage of cardiac tamponade, since early recognition and expeditious supportive care are the only therapeutic modalities available for adequate management of this complication.

SKULL TRAUMA AS ONE OF THE CAUSES FOR SUBDURAL HEMATOMA DEVELOPMENT IN AN INFANT WITH GLUTARIC ACIDURIA TYPE 1: A BRIEF REVIEW OF THE LITERATURE AND CLINICAL OBSERVATION

2021 ◽  
Vol 100 (1) ◽  
pp. 287-293
Author(s):  
Z.G. Tadtaeva ◽  
◽  
A.N. Galustyan ◽  
O.A. Gromova ◽  
P.A. Popov ◽  
...  
Keyword(s):  
Clinical Observation ◽  
Brain Mri ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Glutaric Aciduria Type ◽  
Review Of The Literature ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Subdural Hematomas

The article presents a brief review of the literature and clinical observation of glutaric aciduria type 1 (GA1) in a child, manifested by encephalitis-like crisis and subdural hematomas, which were initially regarded as the consequences of traumatic brain injury. Based on the analysis of clinical and neuroimaging data, the diagnosis of GA1 was assumed, which was later confirmed by molecular genetic research. After therapy with the inclusion of a specialized diet with protein restriction, some improvement in motor activity was noted. The presence of bilateral subdural hematomas dictates the need for differential diagnosis with GA1. A highly informative method of diagnosing GA1 is brain MRI.

scholarly journals Metabolic Serendipities of Expanded Newborn Screening

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 1018
Author(s):  
Raquel Yahyaoui ◽  
Javier Blasco-Alonso ◽  
Montserrat Gonzalo-Marín ◽  
Carmen Benito ◽  
Juliana Serrano-Nieto ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Incidental Findings ◽  
Biochemical Study ◽  
Case Reports ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Cationic Amino Acid ◽  
Carnitine Transporter ◽  
Arginase 1 ◽  
First Case

Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have an immediate clinical impact on the newborn, but are sometimes an additional benefit of NBS programs and may be considered secondary targets of NBS programs. This work describes four case reports that had incidental findings on the NBS, which eventually led to the diagnosis of another metabolic disease instead of the one that was initially suspected. The first case was a new defect in the cationic amino acid transporter-2 (CAT-2), which was oriented as an arginase-1 deficiency in the newborn. The second case was a maternal glutaric aciduria type 1 (GA-1) that mimicked a carnitine transporter deficiency in the newborn. The third report was a case of lysinuric protein intolerance (LPI), which appeared as high levels of citrulline on the NBS. The fourth case was a mother with homocystinuria that was diagnosed during the biochemical study of vitamin B12 status. All cases provide new or interesting data that will help guide differential diagnosis in the future.

scholarly journals Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1

2013 ◽  
Vol 26 (2) ◽  
pp. 155-161 ◽  
Author(s):  
J. Nunes ◽  
S. Loureiro ◽  
S. Carvalho ◽  
R.P. Pais ◽  
C. Alfaiate ◽  
...  
Keyword(s):  
Brain Mri ◽  
Glutaric Aciduria Type ◽  
Mri Findings ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Diagnostic Clue

scholarly journals Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

2021 ◽  
Vol 12 ◽  
Author(s):  
Huishu E. ◽  
Lili Liang ◽  
Huiwen Zhang ◽  
Wenjuan Qiu ◽  
Jun Ye ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Brain Mri ◽  
Clinical Intervention ◽  
Glutaric Aciduria Type ◽  
Chinese Patients ◽  
Common Symptom ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

PurposeTo characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients.MethodsWe analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland China.Results20 patients were diagnosed by newborn screening and the remaining 81 cases were identified following clinical intervention. Macrocephaly was the most common presentation, followed by movement disorders and seizures. A total of 59 patients were evaluated by brain MRI and 58 patients presented with abnormalities, with widening of the sylvian fissures being the most common symptom. The concentration of glutarylcarnitine in the blood, glutarylcarnitine/capryloylcarnitine ratio, and urine levels of glutaric acid were increased in GA1 patients and were shown to decrease following intervention. A total of 88 patient samples were available for genotyping and 74 variants within the GCDH gene, including 23 novel variants, were identified. The most common variant was c.1244-2A &gt; C (18.4%) and there were no significant differences in the biochemical or clinical phenotypes described for patients with the four most common variants: c.1244-2A &gt; C, c.1064G &gt; A, c.533G &gt; A, and c.1147C &gt; T. Patients identified by newborn screening had better outcomes than clinical patients.ConclusionOur findings expand the spectrum of phenotypes and genotypes for GA1 in Chinese populations and suggest that an expanded newborn screening program using tandem mass spectrometry may facilitate the early diagnosis and treatment of this disease, improving clinical outcomes for patients in China.

Hubungan Sikap dan Karakteristik Pasangan Usia Subur (PUS) dengan Keikutsertaan dalam Program KB di Wilayah Kerja UPT Puskesmas Sungai Raya Kecamatan Sungai Raya Kabupaten Aceh Timur

2020 ◽  
Vol 8 (2) ◽  
pp. 105-114
Author(s):  
Ainul Mardhiah ◽  
Nova Hasbani Prima Dewi ◽  
Aminy Aminy
Keyword(s):  
Family Planning ◽  
Family Planning Program ◽  
The Elderly ◽  
P Value ◽  
Planning Program ◽  
Elderly Age ◽  
Chi Square ◽  
Cross Sectional ◽  
The Family ◽  
Relationship Of

The family planning program also aims to improve the quality of the family in order to generate a sense of security, peace and hope of a better future in realizing the prosperity of birth and inner happiness. Allegedly the factor causing EFA participation in the family planning program is characteristic. The purpose of this research is to know the relationship of attitude and characteristic of Elderly Age Couple (PUS) with participation in family planning program at UPT Puskesmas Sungai Raya Sungai Raya District, East Aceh regency 2018. The research design used was analytic survey with cross sectional design. The population of this study is all Pairs Age of Fertile located in Work Area UPT Sungai Raya Public Health Service Center in January to December 2017 which amounted to 1897 people. Sampling using Slovin formula, obtained as many as 95 samples. The study was conducted from 7-17 July 2018 using questionnaires by interview. Statistical test using chi-square test. Result of research indicate that majority of fertile couple couples (PUS) participate in family planning program as much as 67 respondents (70,5%). Statistically there is relationship of attitude and characteristic of Elderly Age Couple (EFA) with non participation in family planning program in Working Area of UPT Puskesmas Sungai Raya Sungai Raya District of East Aceh Regency 2018 with p value <0,1. It is recommended that the family planning program holders in UPT Puskesmas Sungai Raya Sungai Raya District of East Aceh District to invite cross-sectoral figures to hold meetings to create mini workshop plans at least once a month to increase the participation of the Elderly Age Couple (PUS) in family planning programs. Keyword : Family Planning Program, Attitudes, CharacteristicsABSTRAKProgram KB juga bertujuan untuk meningkatkan kualitas keluarga agar dapat timbul rasa aman, tentram, dan harapan masa depan yang lebih baik dalam mewujudkan kesejahteraan lahir dan kebahagiaan batin. Diduga faktor yang menyebabkan ketidakikutsertaan PUS dalam program KB adalah karakteristik. Tujuan penelitian ini untuk mengetahui hubungan sikap dan karakteristik Pasangan Usia Subur (PUS) dengan keikutsertaan dalam program KB di Wilayah Kerja UPT Puskesmas Sungai Raya Kecamatan Sungai Raya Kabupaten Aceh Timur tahun 2018. Desain penelitian yang digunakan adalah survei analitik dengan rancangan bedah lintang. Populasi dari penelitian ini adalah seluruh Pasangan Usia Subur yang berada di Wilayah Kerja UPT Puskesmas Sungai Raya pada bulan Januari sampai dengan Desember tahun 2017 yang berjumlah 1.897 orang. Pengambilan sampel menggunakan rumus Slovin, didapatkan sebanyak 95 sampel. Penelitian dilaksanakan dari tanggal 7-17 Juli tahun 2018 menggunakan kuesioner dengan cara wawancara. Uji statistik menggunakan uji chi-square. Hasil penelitian menunjukkan bahwa mayoritas Pasangan Usia Subur (PUS) ikut serta dalam program KB yaitu sebanyak 67 responden (70,5%). Secara statistik ada hubungan sikap dan karakteristik Pasangan Usia Subur (PUS) dengan ketidakikutsertaan dalam program KB di Wilayah Kerja UPT Puskesmas Sungai Raya Kecamatan Sungai Raya Kabupaten Aceh Timur tahun 2018 dengan p value < 0,1. Sebaiknya pemegang program KB di UPT Puskesmas Sungai Raya Kecamatan Sungai Raya Kabupaten Aceh Timur agar mengajak tokoh lintas sektor agar mengadakan pertemuan untuk membuat rencana loka karya mini setidaknya satu bulan sekali untuk meningkatkan keikutsertaan Pasangan Usia Subur (PUS) dalam program KB.Kata Kunci : Program KB, Sikap, Karakteristik

Hubungan Alexithymia dengan Kecanduan Media Sosial pada Remaja di Jakarta Selatan

2020 ◽  
Vol 1 (2) ◽  
pp. 9
Author(s):  
Yunita Mansyah Lestari ◽  
Suzy Yusna Dewi ◽  
Aulia Chairani
Keyword(s):  
Social Media ◽  
Interpersonal Relationships ◽  
P Value ◽  
Snowball Sampling ◽  
Research Subjects ◽  
Chi Square ◽  
Toronto Alexithymia Scale ◽  
Social Media Addiction ◽  
Consecutive Sampling ◽  
Tas 20

ABSTRAK   Alexithymia ditandai dengan ketidakmampuan dalam mengenali dan mengekpresikan emosi serta pemikiran yang berorientasi eksternal sehingga mereka memiliki hubungan interpersonal yang buruk. Remaja dengan alexithymia cenderung menjadi kecanduan media sosial.Penelitian ini bertujuan untuk mengetahui hubungan antara Alexithymia terhadap kecanduan media sosial pada remaja di Jakarta Selatan. Subjek penelitian adalah remaja yang berusia 13-19 tahun dan tinggal di Jakarta selatan. Pengambilan data menggunakan metode consecutive sampling dan snowball sampling dengan menyebar kuesioner menggunakan link googleform. Jumlah subjek penelitian sebanyak 207 orang (41 = laki-laki, 166 = perempuan). Skala yang digunakan adalah Toronto Alexithymia Scale (TAS-20) dan Social Media Disorder (SMD). Analisa data menggunakan metode chi-square pada SPSS 25. Hasil penelitian didapatkan 85 orang mengalami alexithymia, 88 mengalami kecanduan dan 62 orang mengalami alexithymia dan kecanduan media sosial. p-value didapatkan 0,000. Hal ini berarti terdapat hubungan antara Alexithymia dengan Kecanduan Media Sosial pada remaja di Jakarta Selatan. Kata Kunci :Alexithymia, Kecanduan Media Sosial, Remaja     ABSTRACT   Alexithymia is characterized by an inability to recognize and express emotions and have external oriented thoughts so that they have poor interpersonal relationships. Teenagers with alexithymial tend to become addicted to social media. This study aims to determine the relationship between Alexithymia towards social media addiction in adolescents in South Jakarta. The research subjects were adolescents aged 13-19 years and lived in south Jakarta. Retrieval of the data was using consecutive sampling and snowball sampling method by distributing questionnaires using the googleform link. The number of research subjects was 207 people (41 = men, 166 = women). The scale was used is the Toronto Alexithymia Scale (TAS-20) and Social Media Disorder (SMD). Data analysis using the chi-square method in SPSS 25. The results showed that 85 people had alexithymia, 88 were addicted and 62 people had alexithymia and were addicted to social media. p-value obtained is 0,000. This means that there is a relationship between Alexithymia and Social Media Addiction in adolescents in South Jakarta. Keyword : Adolescents, Alexithymia, Social Media Addiction

HUBUNGAN KARAKTERISTIK PASIEN DENGAN PEMAHAMAN PERSETUJUAN TINDAKAN MEDIS PADA TINDAKAN BEDAH DI RUMAH SAKITPERTAMINA BINTANG AMIN (RSPBA) BANDAR LAMPUNG BULAN MARET 2015

2019 ◽  
Vol 6 (1) ◽  
pp. 19-28
Author(s):  
Rakhmie Rafie ◽  
Yusmaidi Yusmaidi ◽  
Mira Fitriyani
Keyword(s):  
Informed Consent ◽  
Confidence Interval ◽  
P Value ◽  
Chi Square ◽  
Cross Sectional

Berdasarkan Permenkes 585/1989 dikatakan bahwa informed consent adalah persetujuan yang diberikan oleh pasien atau keluarganya atas dasar penjelasan mengenai tindakan medis yang akan dilakukan terhadap pasien tersebut. Peran dan tanggung jawab dokter terhadap pelaksanaan tindakan medis berdasarkan imformed consent sangat penting untuk mencegah kemungkinan yang akan terjadi kepada pasien nantinya. Pemahaman terhadap informasi yang diberikan dipengaruhi oleh beberapa faktor, diantaranya karakteristik orang tersebut. Survey analitik dengan desain cross sectional dengan wawancara terpimpin menggunakan kuesioner terhadap 100 responden, dan diolah menggunakan analisa univariat dan bivariat dengan uji Chi-Square. Hasil penelitian menunjukkan bahwa: yang berusia dewasa 84 responden (84%) dan yang berusia muda sebanyak 16 responden (16%), laki- laki 63 responden (63%) dan perempuan 37 responden (37%), yang berpendidikan rendah 41 responden (41%) dan yang berpendidikan tinggi 59 responden, yang tidak bekerja 24 responden (24%) sedangkan yang bekerja 76 responden (76%), yang mempunyai pemahaman baik 58 responden (58%) dan yang tidak baik sebanyak 42 responden (42%). Variabel yang terdapat hubungan bermakna dengan pemahaman terhadap persetujuan tindakan medis pada tindakan bedah di RSPBA pada bulan Maret 2015 adalah umur (nilai p value = 0,037) OR = 3.761 dengan nilai Confidence Interval (1.195-11.835)dan pendidikan (nilai p value = 0,00) OR = 8.551 dengan Confidence Interval (3.436-21.285). Sedangkan variabel yang tidak terdapat hubungan bermakna dengan pemahaman persetujuan tindakan medispada tindakan bedah di RSPBA pada bulan Maret 2015 adalah jenis kelamin (nilai p value = 0,987) dan pekerjaan (p value = 0,251). Terdapat hubungan bermakna antara umur dan pendidikan dengan pemahaman terhadap persetujuan tindakan medis pada tindakan bedah di RS Pertamina Bintang Aamin (RSPBA) pada bulan Maret 2015.  

Determinan Kejadian Malaria di Puskesmas Masni Manokwari

2019 ◽  
Vol 7 (04) ◽  
pp. 215-224
Author(s):  
Kristin Yuliati Sayori ◽  
Astrid Novita
Keyword(s):  
P Value ◽  
Chi Square ◽  
Cross Sectional

Wanita hamil termasuk golongan yang rentan untuk terkena malaria karena berhubungan dengan penurunan imunitas di masa kehamilan. Tujuan penelitian ini adalah untuk mengetahui hubungan usia kehamilan, kebiasaan keluarga, lingkungan tempat tinggal, dan penggunaan kelambu dengan kejadian malaria pada ibu hamil. Jenis penelitian ini adalah observasional analitik dengan desain Cross sectional. Populasi pada penelitian ini adalah semua ibu hamil trimester 1 dan 2 di wilayah kerja Puskesmas Masni dari bulan Juli-Desember Tahun 2017 dengan teknik pengambilan sampel secara Total Sampling yaitu sebanyak 112 orang. Penelitian ini dilakukan pada bulan Januari tahun 2018. Penelitian ini menggunakan data primer dan sekunder yaitu kuesioner dan data status pasien sebagai alat ukur. Teknik pengolahan dan analisis data mengunakan uji Chi-square. Hasil penelitian menunjukan ada hubungan usia kehamilan dengan kejadian malaria (p-value=0,025), ada hubungan kebiasaan keluarga dengan kejadian malaria (p-value=0,011), ada hubungan lingkungan tempat tinggal dengan kejadian malaria (p-value=0,022), dan ada hubungan penggunaan kelambu dengan kejadian malaria (p-value=0,030). Kesimpulannya ada hubungan usia kehamilan, kebiasaan keluarga, lingkungan tempat tinggal, dan penggunaan kelambu dengan kejadian malaria. Saran bagi tenaga kesehatan agar dapat melakukan perbaikan prosedur distribusi kelambu berinsektisida gratis bagi masyarakat sehingga lebih tepat sasaran, dan perlu memaksimalkan sosialisasi cara penggunaan dan pemeliharaan kelambu berinsektisida.

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