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Management of Lowe syndrome: a case report Risky Vitria Prasetyo; Heru Setiawan; Ninik Asmaningsih Soemyarso; Mohammad Sjaifullah Noer; Irwanto Irwanto; Prastiya Indra Gunawan; Rozalina Loebis; Sri Andreani Utomo; Ni Wayan Tirthaningsih
Paediatrica Indonesiana Vol 55 No 3 (2015): May 2015
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (2093.872 KB) | DOI: 10.14238/pi55.3.2015.176-84

Abstract

Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys.1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined.2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA) in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl) living in Italy in the year 2005.2,4,5 It almost exclusively affects males.6 Physicians may not be familiar with Lowe syndrome due to its rarity.4
Tuberous sclerosis complex in a child: diagnosis and management Prastiya Indra Gunawan; Aminuddin Harahap; Darto Saharso
Paediatrica Indonesiana Vol 50 No 3 (2010): May 2010
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi50.3.2010.181-6

Abstract

Tuberous sclerosis complex (TSC) is a multisystem, autosomal dominant disorder affecting children and adults, resulted from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin) genes located on chromosomes 9 and 16 respectively.1,2 Synonyms of TSC are Bourneville Pringle syndrome, epiloia, or tuberosclerosis. This disorder is characterized by seizures, mental disability, and small noncancerous tumors on the skin and other body tissues, such as brain, eye, lung, and kidney. The classic triad are seizures, mental retardation, and cutaneous angiofibromas.3
PROFIL PASIEN ENSEFALOKEL ANAK USIA 0 -18 TAHUN DI DEPARTEMEN BEDAH SARAF RSUD DR. SOETOMO SURABAYA Avida Marisa Ilmi; Viskasari Pintoko Kalanjati; Wihasto Suryaningtyas
Majalah Biomorfologi Vol. 29 No. 2 (2019): Majalah Biomorfologi
Publisher : Universitas Airlangga, Surabaya, Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (266.01 KB) | DOI: 10.20473/mbiom.v29i2.2019.40-44

Abstract

Background: Data of encephalocele patient is rarely found in Indonesia, especially in East Java. Researcher conducted an observation aboutprofile of encephalocele patient age 0–18 years old at Department of Neurosurgery, Dr. Soetomo Hospital, Surabaya, Indonesia.Objective: To observe profile of encephalocele patient age 0–18 years at Department of Neurosurgery, Dr. Soetomo Hospital, Surabaya, Indonesia. Material and method: This is cross sectional observation research observing medical record of encephalocele patient age 0–18 years at Department of Neurosurgery, Dr. Soetomo Hospital, Surabaya, Indonesia from 2010 to 2012.This study also observeage groups, gender, address, and types of encephalocele. Results: 27 male and 23 female patients were included. From 5 types based on the defect location, 30 patients are diagnosed as nasofrontal encephalocele, nasoorbita is found at 17 patients, while nasofrontoorbita, maxilonasoorbita and nasoethmoorbita is found at 1 patient each. The most dominant age group is 0 – 3.5 years old (n=15). From 50 patients, 43 patients were from outside Surabaya.Conclusions: The number of male patients diagnosed with encephalocele were slightly higher compared to female patients. Nasofrontal type was the predominant type amongst other types. The majority of encephalocele patients were 0 – 3.5 years old. These patients mostly were from outside of Surabaya city.
A case of juvenile dermatomyositis responding to methotrexate and steroid Prastiya Indra Gunawan; Darto Saharso
Cermin Dunia Kedokteran Vol 44, No 6 (2017): Dermatologi
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.55175/cdk.v44i6.793

Abstract

A 4-year-old patient presented with skin rash and weakness. She was diagnosed with juvenile dermatomyositis based on Bohan and Peter criteria and laboratory result. The treatment consist of steroid combined with methotrexate. The response is good.Pasien anak perempuan berusia 4 tahun dengan keluhan bercak kemerahan di kulit dengan kelumpuhan. Pasien didiagnosis juvenile dermatomyositis berdasarkan kriteria Bohar dan Peter dan hasil laboratorium. Pasien mendapat terapi steroid dikombinasi dengan methotrexate, menunjukkan hasil baik.
Spinal Arachnoid Cyst in Children Wihasto Suryaningtyas
Neurologico Spinale Medico Chirurgico Supplementary Issue - Conference Abstracts
Publisher : Indoscholar

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Abstract

Spinal arachnoid cyst is rarely seen in children. The presenting features can be mistakenly assumed as myelitis or Guillan-Barre syndrome. Intermittent weaknesses of the leg, progressive ascending weakness of the leg, sensory disturbance, and altered physiological reflexes are the hallmark of the disease. Nabors classified the pathology of the spinal arachnoid cyst into three types: extradural without nerve root involvement; extradural with nerve root; and intradural. It is mostly located in mid- to lower thoracic. The causes and natural history of pediatric arachnoid cysts are unclear. They usually are associated with trauma, surgery, arachnoiditis, and neural tube defects. MRI is a useful diagnostic tool. We present two cases of extradural and intradural arachnoid cysts in children. The follow-up and surgical results are reviewed. The surgical therapy itself is straightforward. However, the wrong conclusion might cause a financial burden and may cause preventable sequel.
Electroencephalogram in Children who Experienced First Unprovoked Seizure Arinda Putri Auna Vanadia; Prastiya Indra Gunawan; Abdurachman Abdurachman; Martono Tri Utomo; Hanik Badriyah Hidayati
AKSONA Vol. 2 No. 2 (2022): JULY 2022
Publisher : Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (670.869 KB)

Abstract

Highlight: Epiletiform abnormalities on the EEG provide additional clinical infromation about seizures The majority of patients who have a first unprovoked seizure have an abnormal EEG (Abnormal II). Using EEG as a supporting diagnostic tool in patients experiencing their first unprovoked seizures may provide more information to improve treatment   ABSTRACT Introduction: The first unprovoked seizure is defined as a series of seizures that occur within 24 hours and are followed by recovery of consciousness with unknown triggering causes such as head trauma, central nervous system infections, tumors, or hypoglycemia. The first unprovoked seizure is a thing that cannot be underestimated. According to a previous study, less than half of those who experience their first unprovoked seizure will have another. An electroencephalogram (EEG) is one of the supporting examinations for the first unprovoked seizure. Objective: This study aims to determine the EEG as the first unprovoked seizure supporting examination. Methods: This is a retrospective, descriptive, observational study with sampling from the patient's medical record at Dr. Soetomo General Hospital Surabaya from January 2017 to December 2018 based on predetermined inclusion and exclusion criteria. Results: The EEG results in children who experienced their first unprovoked seizure were more abnormal (52.9%) than normal (47.1%), with an abnormal EEG breakdown of abnormal II (17.6%) and abnormal III (35.3%). There were no patients in this study who had EEG abnormal I. All patients with EEG abnormal II (17.6%) had an intermittent slow EEG waveform, while all patients with EEG abnormal III (35.3%) had a sharp waveform. The most common location of EEG wave abnormalities was temporal (55.6%). Conclusion: In the first unprovoked seizure, an EEG examination can assist clinicians as a seizure diagnostic assistant tool. It is hoped that the results of the EEG can provide better management of the first unprovoked seizure.
PENINGKATAN PENGETAHUAN TENAGA DAN KADER KESEHATAN SEBAGAI KUNCI PENCEGAHAN INFEKSI SISTEM SARAF PUSAT PADA ANAK DI KABUPATEN SUMENEP Prastiya Indra Gunawan; Riza Noviandi; Sunny Mariana Samosir; Dwiyanti Puspitasari
Jurnal Abdi Insani Vol 10 No 1 (2023): Jurnal Abdi Insani
Publisher : Universitas Mataram

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.29303/abdiinsani.v10i1.759

Abstract

Central nervous system (CNS) infection is a major cause of morbidity and mortality in children. The causes of CNS infections that are often found in children include bacteria, viruses, fungi, and parasites. Immunization is one way that has been proven safe and effective in preventing CNS infections in children. However, the coverage of child protection in Sumenep Regency still has not reached the target. The purpose of this community service activity is to increase the knowledge of health workers and cadres in the Pasongsongan Health Center area, Sumenep Regency about the dangers of CNS infections in children and their prevention. The selected partners are the Pasongsongan Community Health Center which covers the working area of 10 villages in Pasongsongan District, Sumenep Regency. Activities carried out using the counseling method through media zoom, in the form of lectures and questions and answers about the introduction and prevention of CNS infections. Pre-test and post-test assessments of extension activities were carried out to assess the increase in the participants' level of knowledge. There were 72 participants with varied backgrounds consisting of doctors, nurses, midwives, health workers and health cadres. As many as 68% of health workers had received socialization about CNS infection in children before during their education or continuing medical education. The level of knowledge of the participants was assessed from the pre and post tests which consisted of 10 multiple choice questions on the topic of CNS infection in children. From the evaluation results, the average pre-test score was 68.4 and the post-test was 100. An increase in knowledge was obtained with an average increase of 36.48% with the highest increase of 70 points and the smallest increase of 10 points. Community service activities in the form of counseling on CNS infections in children can increase the knowledge of health workers and cadres in the Pasongsongan Health Center, Sumenep Regency, about children's SSP infections.
Increased Levels of Nerve Growth Factor Indicating Brain Injury In Mice Model Prastiya Indra Gunawan; Riza Noviandi; Sunny Mariana Samosir
Jurnal Ilmiah Kedokteran Wijaya Kusuma Vol 11, No 2 (2022): SEPTEMBER 2022
Publisher : Universitas Wijaya Kusuma Surabaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.30742/jikw.v11i2.2024

Abstract

Hypoxic-ischemic encephalopathy (HIE) brain injury is one of the leading causes of death and disability worldwide. Nerve growth factor (NGF) is a neurotrophin that plays an important role in the natural repair and regeneration of nerves, but the previous study regarding NGF level after brain injury is still scant. This study aims to determine NGF levels in male Wistar rat models that received right Common Carotid Artery (CCA) occlusion.  This study used an experimental and control design conducted in July-August 2021 at the Stem Cell Research and Development Center, Universitas Airlangga. The right CCA occlusion was performed on the Wistar mouse model in the treatment group, then placed in a hypoxic chamber and reperfusion after 60 minutes. Observations of neurology scores were carried out in the first 24 hours.  After 2x24 hours the animal was sacrificed for serum NGF level measurement using the ELISA method. Statistical analysis using t-test for independent sample.  A total of 16 male rats participated in the study.  Eight rats in the treatment group were put into hemiparesis at different levels according to observations of neurological scores.  Statistically meaningful differences in NGF levels were found in the treatment group compared to controls (P<0.05). Average NGF levels in the treatment group were higher than in the controls.  NGF levels in mice with HIE were higher than the control group, which indicates the body's natural mechanism for neuron protection following ischemic hypoxic events.
MANAJAMEN SPASTISITAS PALSI SEREBRAL MENGGUNAKAN TEKNIK SELECTIVE PERCUTANEOUS MYOFASCIAL LENGTHENING Prastiya Indra Gunawan; Muhammad Rizki Darmawan M; Riza Noviandi
NEURONA Vol 38 No 3 (2021)
Publisher : PERDOSNI

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Abstract

Cerebral palsy (CP) is a condition of a permanent and non-progressive defect in the brain that occurs at an early age. It interferes with brain development and shows abnormalities in position, muscle tone and motor coordination, and other neurological disorders. ????ecent diagnostic guidelines state that cerebral palsy can be established early. The first step in diagnosing cerebral palsy is identifying risk factors. Intervention in the structure and function of the body is the main domain in managing cerebral palsy. This intervention aims to correct anatomical structural abnormalities that can interfere the body function. Spasticity is the most common anatomical structural abnormality found in cerebral palsy. The Selective percutaneous myofascial lengthening (SPML) technique is helpful as a minimally invasive procedure that treats spasticity with more minor complications than conventional surgical techniques. Keywords: cerebral palsy, selective percutaneous myofascial lengthening, spasticity
Faktor Risiko Disabilitas Berat pada Anak dengan Guillain-Barré Syndrome di RSUD Dr. Soetomo Surabaya Ratih Dwi Andini; Darto Saharso; Prastiya Indra Gunawan
MEDICINUS Vol. 34 No. 1 (2021): MEDICINUS
Publisher : PT Dexa Medica

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (95.648 KB) | DOI: 10.56951/medicinus.v34i1.48

Abstract

Latar Belakang: Guillain-Barré Syndrome (GBS) merupakan penyebab paralisis neuromuskular akut yang paling sering ditemukan. Prognosis anak-anak dengan GBS pada umumnya tergolong baik, namun terdapat kemungkinan prognosis buruk yang membutuhkan ventilasi mekanis dan mengakibatkan terjadinya defisit neurologis. Penelitian ini bertujuan untuk mengamati faktor risiko disabilitas yang berpengaruh pada anak dengan GBS di RSUD Dr. Soetomo Surabaya. Metode: Penelitian ini menggunakan desain cross-sectional yang dilakukan pada anak dengan GBS, menggunakan data yang diperoleh dari rekam medis. Outcome pasien selama perawatan pada penelitian ini adalah sembuh, disabilitas, dan meninggal. Analisis statistik menggunakan uji Chi-Square dengan nilai signifikansi p<0,05. Hasil: Sebanyak 61 anak dengan GBS memenuhi kriteria inklusi selama masa studi penelitian. Anak laki-laki didapatkan sebanyak 54,1% dan infeksi saluran pernafasan atas merupakan penyebab paling sering (73,8% kasus). Mean usia pada penelitian ini adalah 8,4(±3,79) tahun. Sebagian besar jenis GBS adalah acute inflammatory demyelinating polyradiculoneuropathy (AIDP) yakni sebanyak 89,1% kasus. Hasil analisis menunjukan bahwa pasien GBS yang mengalami gagal napas dengan penggunaan ventilasi mekanis, menunjukkan odds ratio terjadinya disabilitas berat sebesar 8,9(1/0,112) kali lebih besar dibandingkan pasien yang tidak menggunakan ventilasi mekanis. Kesimpulan: Penggunaan ventilasi mekanis merupakan faktor risiko terjadinya disabilitas berat pada anak dengan GBS.