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All Journal Bioscientia Medicina : Journal of Biomedicine and Translational Research Open Access Indonesian Journal of Medical Reviews Bioscientia Medicina : Journal of Biomedicine and Translational Research
Regina Suriadi
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Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience

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Clinical Characteristics and Progression of Osteogenesis Imperfecta Type III: A Case Series Edbert Wielim; Chyntia; Regina Suriadi; I Wayan Bikin Suryawan
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 9 No. 5 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v9i5.1268

Abstract

Background: Osteogenesis imperfecta (OI) is a rare genetic disorder primarily affecting bone formation, leading to increased bone fragility and fractures. OI Type III is characterized by severe clinical manifestations, including multiple fractures, skeletal deformities, and short stature. This case series describes the clinical characteristics and progression of three patients diagnosed with OI Type III, highlighting the impact of early intervention with zoledronic acid on their outcomes. Case presentation: This study presents three cases of OI Type III in female patients. Two patients (Patient A and Patient R) were diagnosed at birth with multiple fractures and received zoledronic acid treatment starting at three months of age. The third patient (Patient D) presented with fractures later in infancy and began treatment at one year of age. All patients demonstrated hallmark features of OI Type III, including blue sclerae, short stature, and progressive skeletal deformities. However, the two patients who received earlier treatment with zoledronic acid showed better mobility and fewer fractures compared to the patients who started treatment later. Conclusion: This case series emphasizes the importance of early diagnosis and intervention in OI Type III. Zoledronic acid appears to be effective in reducing fracture rates and improving mobility in these patients. Further studies with larger sample sizes are needed to confirm these findings and optimize treatment strategies for OI Type III.
Beyond Microcephaly: Semilobar Holoprosencephaly with Marked Macrocephaly due to Severe Congenital Hydrocephalus, Brachycephaly, and Hyponatremia – A Case Report Cynthia Cynthia; Edbert Wielim; Regina Suriadi; Putu Siska Suryaningsih
Open Access Indonesian Journal of Medical Reviews Vol. 5 No. 5 (2025): Open Access Indonesian Journal of Medical Reviews
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/oaijmr.v5i5.768

Abstract

Holoprosencephaly (HPE) is a rare, complex brain malformation arising from incomplete prosencephalon cleavage, typically associated with microcephaly and facial dysmorphism. Coexisting severe hydrocephalus leading to macrocephaly in HPE, particularly the semilobar type, presents a distinct clinical picture. Hyponatremia often complicates neurological conditions involving increased intracranial pressure, potentially worsening prognosis. The aim of this case report is to meticulously describe the clinical presentation, diagnostic evaluation, management approach, and early outcomes of this rare and complex neonatal neurological disorder. A male neonate, born at 35+3 weeks gestation to a mother with severe preeclampsia, presented with marked macrocephaly (head circumference 50 cm), a prominent fontanel, and bilateral sunset eyes. Initial CT scan confirmed hydrocephalus. Subsequent evaluation and a repeat CT scan at one month revealed brachycephaly (cephalic index 98) and semilobar holoprosencephaly. Head circumference progressed to 64 cm by the time of ventriculoperitoneal (VP) shunt surgery at approximately 5 weeks of age. Laboratory investigations showed hyponatremia (120 mEq/L), hyperkalemia, and hypochloremia. At three months, the patient exhibited significant growth and developmental delays and malnutrition. In conclusion, this case highlights an unusual presentation of semilobar HPE characterized by severe congenital hydrocephalus causing marked macrocephaly, rather than microcephaly, complicated by brachycephaly and significant hyponatremia. Early, comprehensive diagnostic evaluation and multidisciplinary management are crucial in such complex neurodevelopmental disorders to address multifaceted challenges and attempt to optimize outcomes.
Clinical Characteristics and Progression of Osteogenesis Imperfecta Type III: A Case Series Edbert Wielim; Chyntia; Regina Suriadi; I Wayan Bikin Suryawan
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 9 No. 5 (2025): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v9i5.1268

Abstract

Background: Osteogenesis imperfecta (OI) is a rare genetic disorder primarily affecting bone formation, leading to increased bone fragility and fractures. OI Type III is characterized by severe clinical manifestations, including multiple fractures, skeletal deformities, and short stature. This case series describes the clinical characteristics and progression of three patients diagnosed with OI Type III, highlighting the impact of early intervention with zoledronic acid on their outcomes. Case presentation: This study presents three cases of OI Type III in female patients. Two patients (Patient A and Patient R) were diagnosed at birth with multiple fractures and received zoledronic acid treatment starting at three months of age. The third patient (Patient D) presented with fractures later in infancy and began treatment at one year of age. All patients demonstrated hallmark features of OI Type III, including blue sclerae, short stature, and progressive skeletal deformities. However, the two patients who received earlier treatment with zoledronic acid showed better mobility and fewer fractures compared to the patients who started treatment later. Conclusion: This case series emphasizes the importance of early diagnosis and intervention in OI Type III. Zoledronic acid appears to be effective in reducing fracture rates and improving mobility in these patients. Further studies with larger sample sizes are needed to confirm these findings and optimize treatment strategies for OI Type III.
Co-Authors Chyntia Cynthia Cynthia Edbert Wielim I Wayan Bikin Suryawan Putu Siska Suryaningsih