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All Journal JURNAL GIZI INDONESIA Jurnal Kedokteran Diponegoro Journal of Biomedicine and Translational Research Paediatrica Indonesiana Medica Hospitalia

Rina Pratiwi

Departments Of Pediatrics, Diponegoro University Medical School/Dr. Kariadi Hospital, Semarang, Central Java, Indonesia.

Author-ID : 346401

Biochemistry, Genetics & Molecular Biology Dentistry Health Professions Medicine & Pharmacology Nursing Public Health

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

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.

CORRELATION BETWEEN VITAMIN D LEVELS AND PEDIATRIC ANTHROPOMETRY STATUS IN NEONATES Tri Elina Sari; Muslimin Muslimin; Adhie Nur Radityo; Rina Pratiwi
Medica Hospitalia : Journal of Clinical Medicine Vol. 9 No. 1 (2022): Med Hosp
Publisher : RSUP Dr. Kariadi

Background: Problems of vitamin D deficiency is now starting to become a concern in the world because 1 million people worldwide have vitamin D deficiency and nearly 50% have vitamin D insufficiency. Vitamin D deficiency is more common in neonates which can increase the risk of low birth weight and also effect on baby length, head circumference. Aim: Understanding the correlation between vitamin D levels and anthropometric status in neonates.Method: This study used an observational analytic study with a cross sectional approach. The research sample was neonates at term. The data from questionnaires and direct anthropometric measurements on neonates who came to delivery room and pediatric polyclinic of the Diponegoro National Hospital, Semarang and Dr. Kariadi General Hospital, Semarang. The data normality test used the Saphiro-Wilk test. Correlation test between vitamin D levels and anthropometric status using the Pearson test, and test levels of vitamin D with nutritional status (WHZ, WAZ, HAZ) using the Spearman test.Results: Median (min-max) neonatal vitamin D levels were 12.12 (6.09 - 19.52). There was no significant correlation between vitamin D levels and neonatal age, neonatal anthropometric status, maternal sun exposure and neonatal diet type. This is influenced by several other factors that are consistent with the theory such as neonatal nutrition, genetics, time and length of sun exposure, poor dietary intake.Conclusion: There was no significant correlation between vitamin D levels and weight, body length, height, nutritional status of WHZ, WAZ, HAZ in neonates.

Vitamin D dan paparan sinar matahari untuk mencegah COVID-19. Fakta atau mitos ? Maria Mexitalia; Martvera Susilawati; Rina Pratiwi; JC Susanto
Medica Hospitalia : Journal of Clinical Medicine Vol. 7 No. 1A (2020): Med Hosp
Publisher : RSUP Dr. Kariadi

Latar Belakang : Paparan sinar matahari pada kulit merupakan cara terbaik untuk sintesis vitamin D. Kadar vitamin D yang adekuat dalam tubuh merupakan proteksi terhadap berbagai penyakit seperti penyakit degeneratif, kanker dan juga infeksi saluran napas. Beberapa penelitian menghubungkan kadar vitamin D yang rendah dengan morbiditas dan mortalitas COVID-19. Hal ini menyebabkan fenomena baru pada masyarakat yaitu kebiasaan berjemur. Tujuan : Artikel ini akan membahas tentang metabolisme vitamin D, peran sinar matahari dalam mengaktifkan vitamin D di dalam tubuh, dan peran vitamin D dalam berbagai penyakit, khususnya mekanisme imunitas untuk COVID-19. Diskusi : Vitamin D meningkatkan kekebalan alami seluler terutama dengan cara menginduksi peptida antimikroba, yang meliputi cathelicidin, LL-37, 1,25-dihdroxyvitamin D dan defensins. Selain itu vitamin D akan meningkatkan sekresi hidrogen peroksida pada sel monosit. Pemberian vitamin D dosis tinggi sebanyak 10.000 IU/hari selama beberapa minggu dilanjutkan 5000 IU/hari bermanfaat untuk mencegah COVID-19, walaupun hasilnya masih memerlukan penelitian lebih lanjut. Absorpsi sinar matahari ke dalam tubuh manusia dipengaruhi oleh warna kulit, penggunaan bahan pakaian dan tabir surya , dan luas pajanan. Paparan sinar matahari sebesar satu Minimal Erythemal Dose (MED) pada orang dewasa dapat meningkatkan konsentrasi vitamin D setara dengan suplementasi 10.000 – 25.000 IU. Penelitian pada bayi yang diberi paparan 3 kali seminggu @ 5 menit pada jam 10.00-14.00, dengan paparan 50% area tubuh selama 2 bulan, mendapatkan kenaikan 25(OH)D sebesar 8,9 ng/mL. Simpulan : Vitamin D yang diaktifkan oleh paparan sinar matahari sangat bermanfaat sebagai proteksi berbagai penyakit termasuk juga pada COVID-19, walaupun efektifitasnya masih memerlukan penelitian lebih lanjut. Kata Kunci : COVID-19, vitamin D, paparan sinar matahari Background : The exposured of sunlight on the skin is the best way for vitamin D synthesis. Adequate vitamin D levels are protection against various diseases such as degenerative diseases, cancer and also respiratory infections. Several studies have linked between low vitamin D levels with COVID-19 morbidity and mortality. This causes a new phenomenon in the community, namely sunbathing. Purpose : This review rearticle will discuss about vitamin D metabolism, the role of sunlight in activating vitamin D in the body, and the role of vitamin D in various diseases, specifically the immune mechanism for COVID-19.Discussion : Vitamin D increases cellular innate immunity mainly by inducing antimicrobial peptides, which include cathelicidin, LL-37, 1,25-dihdroxyvitamin D and defensins, and also increase the secretion of hydrogen peroxide in monocyte cells. The administration of high-dose vitamin D of 10,000 IU / day for several weeks followed by 5000 IU / day is useful to prevent COVID-19, although the results still require further research. The sun exposure to activated vitamin D body is affected by skin color, using of clothing and sunscreen, and area of ??exposure. Sun exposure of one Minimum Erythemal Dose (MED) in adults can increase vitamin D concentrations equivalent to 10,000 - 25,000 IU vitamin D supplementation. Study on infants who were given exposure 3 times a week @ 5 minutes at 10:00 to 14:00, with exposure 50% of body surface area for 2 months, increased 25(OH)D of 8.9 ng/mL. Conclusion : Vitamin D which is activated by sun exposure is very useful as protection for various diseases including COVID-19, although its effectiveness still requires further research. Keywords : vitamin D, sun exposure, COVID-19.

Co-Authors Adhie Nur Radityo Adhie Nur Radityo Adriyan Pramono Amallia Nugettsiana Setyawati Diondra Eka Rizkiawan Erna Mirani Farid Agung Rahmadi, Farid Agung Galuh Hardaningsih Galuh Hardaningsih, Galuh JC Susanto Kusmiyati Tjahjono Liana Ekowati Maria Mexitalia Martvera Susilawati Muhammad Sholeh Kosim Muslimin Muslimin Nisrina Nur Haniyah Noor Wijayahadi Nyoman Suci Widyastiti Tri Elina Sari

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Journal : Medica Hospitalia