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Ekowati, Liana
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Niemann-Pick disease type A: a case report Mirani, Erna; Pratiwi, Rina; Widyastiti, Nyoman Suci; Ekowati, Liana; Mexitalia, Maria
Medica Hospitalia : Journal of Clinical Medicine Vol. 8 No. 1 (2021): Med Hosp
Publisher : RSUP Dr. Kariadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (309.02 KB) | DOI: 10.36408/mhjcm.v8i1.577

Abstract

BACKGROUND Niemann-Pick disease (NPD) types A result from the deficient activity of sphingomyelinase. NPD type A is characterized by early-onset, progressive neurodegenerative course; systemic disease manifestations, including massive hepatosplenomegaly, interstitial lung disease, and cherry-red macula; and death in early childhood. The objective: to enhance the recognition of health care providers about the potential undiagnosed NPD because nonspecific clinical manifestation CASE PRESENTATION A 18-months-old boy was admitted to Dr. Kariadi Hospital with enlarged abdomen since seventh month old with failure to thrive. He also showed progressive loss of neurologic function, microcephaly with open major fontanelle, recurrent pulmonary and systemic infection. Physical examination revealed facial dysmorphic, milestone regression, under-nutrition, crackles in both lungs, hepatosplenomegaly with petechial in extremities and floppy infants. Laboratory investigations showed anemia (9.4 g/dL) and thrombocytopenia (73.000/mm3). The lactate dehydrogenase (482 U/L) and alkaline phosphatase (159, 03 IU/L) were higher than normal. Abdominal ultrasound revealed hepatomegaly with normal parenchyma and splenomegaly without nodule. Skeletal survey revealed Erlenmeyer flask deformity. Foam cell are detected in bone marrow puncture. Retcam examination showed cherry red spot at the macula. Bera revealed auditory neuropathy. The enzyme activity showed normal ?–Glucosidase (5.55 uM/hr) and chitotriosidase (105,8 nmol/ml) but low sphingomyelinases activity (0.30 uM/hr) which confirmed the diagnosis of NPD. DISCUSSION Niemann-Pick disease (NPD) types A result from the deficient activity of sphingomyelinase. NPD type A is characterized by early-onset, progressive neurodegenerative course; systemic disease manifestations, including massive hepatosplenomegaly, interstitial lung disease, and cherry-red macula; and death in early childhood. Type A is very rare and a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age. No treatment available for type A and It’s a rare disease in Indonesia. CONCLUSION These investigations were able to diagnose this child as a NPD-Type A. Patient was closely monitored and symptomatic treatment was provided.
PROFILE OF UNILATERAL CATARACT IN PEDIATRIC PATIENTS: A 3 YEAR RETROSPECTIVE STUDY Ulya, Lisana Himmatul; Ekowati, Liana
Majalah Oftalmologi Indonesia Vol 49 No S1 (2023): Supplement Edition
Publisher : The Indonesian Ophthalmologists Association (IOA, Perhimpunan Dokter Spesialis Mata Indonesia (Perdami))

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.35749/tppg5d69

Abstract

Introduction and Objective: Unilateral cataract presents from 19.6% to 55.5% of pediatric cataract. This condition is treatable, but delayed treatment may cause visual impairment. This study aims to understand characteristic of unilateral cataract in children. Methods: This study was descriptive review of patients aged 0-17 years old with unilateral cataract at Dr. Kariadi Hospital, Semarang. Data were collected from medical record of patients from January 2019 to December 2022.   Results: Sixty patients were included in this study, 56.7% of whom were male and 43.3% were female. The mean age at presentation is 71.50 ± 48.34 months with whitish eye being the most common main complaint (65%), followed by blurred vision (35%) and squinting of eye (5%). Most of patients had congenital or infantile cataract (60%), followed by traumatic (36.6%), uveitis (1.7%) and iatrogenic (1.7%). Some of patients had microcornea (21.7%), persistent pupillary membrane (8.3%), retinopathy of prematurity (3.3%), persistent fetal vasculature (8.3%), nystagmus (8.3%), amblyopia (20%) and strabismus (40%), with exotropia being the most common type (33.3%). Most of patients did not have systemic disease (93.3%), but we found two patients had congenital rubella syndrome, one had congenital cytomegalovirus, one had down syndrome. Conclusion: Etiology of unilateral pediatric cataract mostly idiopathic followed by traumatic. Leukocoria was the most common complaint, followed by blurred vision and strabismus. In unilateral cataract, exotropia was more common type of strabismus.
SURGICAL OUTCOMES OF STRABISMUS CORRECTION IN LARGE ANGLE EXOTROPIA Sadida, Rahmah; Ekowati, Liana; Saubig, Arnila Novitasari
Majalah Oftalmologi Indonesia Vol 49 No S1 (2023): Supplement Edition
Publisher : The Indonesian Ophthalmologists Association (IOA, Perhimpunan Dokter Spesialis Mata Indonesia (Perdami))

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.35749/xgn66x65

Abstract

Introduction and Objective: Surgery is one of the treatment options for strabismus. The success rates of surgical interventions, as reported in a number of different studies, vary widely. There is no database of surgical outcome in large angle exotropia patient undergoing surgery in Semarang, Central Java. This study aims to evaluate the surgical outcome of strabismus correction in large angle exotropia in Dr. Kariadi General Hospital.  Methods: A retrospective study held from the medical record of patients with diagnosis large angle (>50?) exotropia undergoing strabismus correction surgery from January 2020-December 2022 in Dr. Kariadi General Hospital, Semarang. The clinical characteristics: sex, age, angle of exodeviation, amblyopia condition, sensory deprivation, and postoperative alignment were obtained. Surgical outcome measured with follow up of angle deviation in one month dan three months follow up after surgery.  Result: Totally 59 large angle exotropia patients were obtained with 31 (53%) were woman and 28 (47%) were man, range aged 1 year to 53 years old had preoperative angle of exodeviation 51->85 ?, 6 (10%) had amblyopia, 11(18.6%) had sensory deprivation. By the 3 months post-operative visit, 100% of all patients reported orthophoria.  Conclusion: This study found the outcome of strabismus correction for large angle exotropia is satisfactory. Two- or three-muscle surgery provides an effective means for treatment of large angle exotropia.  Keywords: large angle exotropia, exodeviation, strabismus  
SURGICAL OUTCOMES OF STRABISMUS CORRECTION IN LARGE ANGLE EXOTROPIA Sadida, Rahmah; Ekowati, Liana; Saubig, Arnila Novitasari
Majalah Oftalmologi Indonesia Vol 49 No S2 (2023): Supplement Edition
Publisher : The Indonesian Ophthalmologists Association (IOA, Perhimpunan Dokter Spesialis Mata Indonesia (Perdami))

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.35749/j47xb287

Abstract

Introduction & ObjectivesSurgery is one of the treatment options for strabismus. The success rates of surgical interventions,as reported in a number of different studies, vary widely. There is no database of surgical outcomein large angle exotropia patient undergoing surgery in Semarang, Central Java. This study aims toevaluate the surgical outcome of strabismus correction in large angle exotropia in Dr. KariadiGeneral Hospital. MethodsA retrospective study held from the medical record of patients with diagnosis large angle (>50?)exotropia undergoing strabismus correction surgery from January 2020-December 2022 in Dr.Kariadi General Hospital, Semarang. The clinical characteristics: sex, age, angle of exodeviation,amblyopia condition, sensory deprivation, and postoperative alignment were obtained. Surgicaloutcome measured with follow up of angle deviation in one month dan three months follow up aftersurgery. ResultsTotally 59 large angle exotropia patients were obtained with 31 (53%) were woman and 28 (47%)were man, range aged 1 year to 53 years old had preoperative angle of exodeviation 51->85 ?, 6(10%) had amblyopia, 11(18.6%) had sensory deprivation. By the 3 months post-operative visit,100% of all patients reported orthophoria. ConclusionThis study found the outcome of strabismus correction for large angle exotropia is satisfactory. Twoor three-muscle surgery provides an effective means for treatment of large angle exotropia.
Co-Authors Erna Mirani Lisana Himmatul Ulya, Lisana Himmatul Maria Mexitalia Nyoman Suci Widyastiti Rina Pratiwi Sadida, Rahmah Saubig, Arnila Novitasari