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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.
Cut-Off Kadar Insulin Like Growth Factor-1, Leptin dan Adiponektin Darah Tali Pusat Pada Bayi Berat Lahir Rendah: Cut-Off Levels of Insulin Like Growth Factor-1, Leptin and Adiponectin Umbilical Cord Blood In Low Birth Weight Babies Mexitalia, Maria; Perdani, Putri; Saputra, Epriyan; Irawan Saputra, Gatot
Medica Hospitalia : Journal of Clinical Medicine Vol. 9 No. 3 (2022): Med Hosp
Publisher : RSUP Dr. Kariadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.36408/mhjcm.v9i3.765

Abstract

LATAR BELAKANG : Insulin-like  Growth Factor-I (IGF-I) berperan dalam pertumbuhan janin terutama pada usia kehamilan lanjut. Adiponektin dan leptin berhubungan dengan depot adipose dalam modulasi metabolisme dan homeostasis energi. Ketiga hormon tersebut memiliki peran penting pada pertumbuhan janin. TUJUAN : Untuk mengetahui nilai cut off kadar IGF-1, leptin dan adiponektin pada bayi berat lahir rendah  (BBLR) sesuai masa kehamilan dan kecil masa kehamilan. METODE : Observasional analitik dengan desain belah lintang, dilaksanakan pada bulan November 2018 - Januari 2019. Subjek adalah  bayi baru lahir, kehamilan  tunggal dengan berat lahir >1000 gram dan <2500 gram, serta usia ibu saat hamil <40 tahun Sampel darah tali pusat diambil setelah bayi lahir, sebelum plasenta dilahirkan. Pemeriksaan IGF-1, leptin dan adiponektin menggunakan teknik immunoassay kuantitatif dengan metode ELISA. Data hasil penelitian merupakan data numerik, dilakukan uji ROC dan uji diagnosis untuk mendapatkan nilai cut-off. HASIL :  Selama periode penelitian, terdapat 46 subyek yang terdiri atas 11 bayi kecil masa kehamilan dan 35 bayi sesuai masa kehamilan. Jenis kelamin laki-laki sebanyak 24 bayi (52,2%) dan perempuan 22 bayi (47,8%). Sebanyak 41,3% bayi lahir dari ibu dengan preeklampsia. Didapatkan nilai cut-off IGF-1 adalah 51,12 ng/ml, nilai cut-off untuk leptin adalah 3,3 ng/ml, dan nilai cut-off adiponectin 19,60 ng/ml. KESIMPULAN : Terdapat perbedaan kadar IGF-1, leptin dan adiponektin darah tali pusat BBLR sesuai masa kehamilan dengan BBLR kecil masa kehamilan dengan nilai cut-off masing-masing. KATA KUNCI    : Bayi berat lahir rendah, darah tali pusat, cut-off, IGF-1, leptin, adiponektin
Fetal Growth Cut-Off Point To Predict Neonatal Outcome In Pregnancy With Normal And Deficient Vitamin D Levels: Intergrowth-21, World Health Organization Fetal Growth Curve, And Hadlock’s Estimated Fetal Weight Dewantiningrum, Julian; Kristanto, Herman; Pudjonarko, Dwi; Mexitalia, Maria; Ediati, Annastasia; Soejoenoes, Ariawan; Hadisaputro, Suharyo
Medica Hospitalia : Journal of Clinical Medicine Vol. 10 No. 2 (2023): Med Hosp
Publisher : RSUP Dr. Kariadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.36408/mhjcm.v10i2.877

Abstract

Purpose : Analyze the cut-off point of fetal growth based on the Intergrowth-21, World Health Organization (WHO), and Hadlock’s estimated fetal weight (EFW) in pregnant women with normal or deficient vitamin D levels to predict neonatal outcomes. Method: This cross sectional study to develop a diagnostic test, included 120 of pregnant women who completed follow up until children aged 2 years, divided into normal and deficient vitamin D group. Ultrasound and maternal vitamin D level examined during the second trimester of pregnancy. EFW was calculated using Hadlock’s formula and plotted on the Intergrowth-21 and WHO curves. The reference standards were the neonatal outcome, LBW, stunting, and neurocognitive impairment. Significant odds ratio (OR) value and area under the curve (AUC) of 0.6 are used to determine the cut-off point to be used. Result: Fetal growth curve was based on the WHO at the 5th percentile to predict LBW to have an AUC of 0.6 and OR of 6, 95% confidence interval (CI) of 1.36–26.45. The AUC for predicting LBW based on Intergrowth and Hadlock were 0.45 and OR not significant. As well as the AUC estimated stunting based on Hadlock, the Intergrowth-21 and the WHO fetal growth curves is <0.6 with OR not statistically significant. The AUC predicted neurocognitive impairment based on WHO’s chart was 0.6 but OR not statistically significant. Conclusion: The WHO fetal growth curve can be used to predict LBW. The cut-off point of the fetal growth curve and which percentile is determined by the neonatal outcome.
TRANSFORMASI GIZI BALITA STUNTING: PENGARUH BISKUIT TINGGI PROTEIN BERBASIS WHEY PROTEIN TERHADAP KADAR SCFA Adhimah, Ayu Fauziyyah; Afifah, Diana Nur; Mexitalia, Maria; Margawati, Ani; Noer, Etika Ratna; Andoyo, Robi; Hatimah, Ihat; Nuryanto, Nuryanto; Endrinikapoulos, Ariana
Media Penelitian dan Pengembangan Kesehatan Vol. 34 No. 3 (2024): MEDIA PENELITIAN DAN PENGEMBANGAN KESEHATAN
Publisher : Poltekkes Kemenkes Bandung

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.34011/jmp2k.v34i3.2083

Abstract

Stunting, characterized by impaired growth and development in children under five, is a major health issue caused by chronic malnutrition and recurrent infections during the first 1000 days of life. Protein intake is crucial for the provision of essential amino acids necessary for optimal growth and immune function. This study aimed to analyze the effect of whey protein-based high-protein biscuits on short-chain fatty acids (SCFA) levels in stunted children. A quasi-experimental design with a pre-post test group was used. Thirty-six stunted children were divided into two groups: the intervention group received whey protein-based high-protein biscuits, while the control group received an equivalent protein source from eggs and tempeh. SCFA levels were measured before and after the intervention. Paired T-tests and Wilcoxon tests were used for statistical analysis. The study found that high-protein biscuits significantly increased SCFA levels (acetate, propionate, and butyrate) in the intervention group (p-value < 0.001). These findings suggest that high-protein biscuits can positively influence gut microbiota and overall health in stunted children. High-protein biscuits can effectively increase SCFA levels in stunted children, contributing to improved gut health. Future studies should explore the long-term effects and potential risks associated with this intervention
Mapping the Research Landscape of Natural Compounds for Tuberculosis Treatment: A Bibliometric Approach Hakam, Abdul; Susilaningsih, Neni; Mexitalia, Maria; Susanto, Hardhono; SyarofilAnam, Moh.
Jurnal Locus Penelitian dan Pengabdian Vol. 4 No. 5 (2025): JURNAL LOCUS: Penelitian & Pengabdian
Publisher : Riviera Publishing

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.58344/locus.v4i5.3981

Abstract

Tuberculosis (TB) remains a global health crisis, exacerbated by rising drug resistance in Mycobacterium tuberculosis. While conventional therapies like BPaL/BPaLM regimens and shorter rifapentine-based treatments show promise 11–33, the need for novel anti-TB agents persists. Natural compounds, particularly from biodiverse regions like Indonesia 77, offer untapped potential, yet prior bibliometric analyses lack comprehensive integration of computational and multi-omics approaches to guide future research. This study maps the research landscape of natural compounds for TB treatment (2015–2025) through bibliometric analysis, identifying gaps and proposing AI-driven, multi-disciplinary strategies to accelerate drug discovery. PubMed-derived data (23 articles) were analyzed using VOSviewer to visualize co-authorship, keyword co-occurrence, and thematic clusters. Trends in authorship, geographic contributions, and research foci (e.g., molecular docking, drug resistance) were evaluated. China dominated research output (11/23 studies), with clusters emphasizing computational methods (e.g., virtual screening), bacterial enzymes, and animal models. Keyword analysis revealed a strong focus on drug resistance and synergism, yet limited exploration of AI, multi-omics, or ethnopharmacology. Notably, studies like Romulo et al. (2018) highlighted Indonesian plants’ anti-TB potential 77, but systematic integration with modern technologies remains underexplored. This study identifies a critical gap: the need to merge traditional natural compound research with AI-aided drug design, multi-omics (e.g., transcriptomics 1616), and nanodelivery systems. By proposing a framework that bridges computational predictions (e.g., molecular docking 1515) with experimental validation, this research advances a novel, scalable approach to combat drug-resistant TB, leveraging global biodiversity and cutting-edge technologies.
Effect of Probiotic Supplementation on Sprague Dawley Rat Liver Histopathology Fed by High Fat High Fructose Diet Kusumawati, Ninung Rose Diana; Panunggal, Damianus Galih; Mexitalia, Maria; Sidhartani, Magdalena; Pratiwi, Juwita; Utari, Agustini
Journal of Biomedicine and Translational Research Vol 7, No 2 (2021): August 2021
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v7i2.11918

Abstract

Background: Non-alcoholic fatty liver disease (NAFLD) is an important cause of liver disease burden worldwide. The gastrointestinal microbiota has a close relationship with the liver as the liver is most exposed to intestinal bacteria. Microbial manipulation is a potential and effective therapy as an alternative in the management of NAFLD/NASH. It has been found that probiotics prevent NAFLD/NASH. However, the study about the protective effect of probiotics on NAFLD/NASH is still limited. Objective: The objective of this study is to evaluate the effect of probiotics on liver histopathology Sprague Dawley rats which given high-fat high fructose (HFHFr) dietMethods: This study is a murine-model post-test-only control study group design. The samples were 21 Sprague Dawley male rats in 7 – 8 weeks of age and were divided into three groups. The Control Group (C) was provided with a standard chow diet for eight weeks. The Non-Probiotic (NP) group was given a High-Fat High Fructose (HFHFr) diet for eight weeks. The Probiotic group (P) was given a HFHFr diet for eight weeks, and a combination of HFHFr and probiotic supplementation consisted of Lactobacillus acidophilus, Bifidobacterium longum, and Streptococcus thermophilus for the next eight weeks. Histopathological samples were obtained from liver biopsy to assess steatosis, NAFLD activity score (NAS), and fibrosis stages. Wilcoxon test was done to analyze body weight before and after treatment. We analyzed the difference in histopathological results using the Mann-Whitney test.Results: We found a significant difference in NAFL and NAS Score between NP and P group. The P group was shown to have lower trends for NAFLD and NASH than the NP group, but not for fibrosis. There is no significant difference between pre and post-test body weight. Conclusion: Probiotics supplementation has a protective effect on liver histopathology against disturbances caused by the HFHFr diet.
Co-Authors Abdul Hakam Adhimah, Ayu Fauziyyah Adriyan Pramono Agustini Utari Ahmad Syauqy Alamsyah, Dedi Alamsyah, Dedi Ali Rosidi Alifiani Hikmah Putranti Ani Margawati Anindita Soetadji Annastasia Ediati Any Setyarini, Any Avionita Latuihamallo Aya Yoshimura Ayu Diana Meilantika Azusa Uemura Bagoes Widjanarko Bambang Hariyana Bandawati, Bandawati Bob Kevin Pardede Darwati Darwati Diana Nur Afifah, Diana Nur Dwi Pudjonarko Edi Dharmana Ekowati, Liana Endrinikapoulos, Ariana Erna Mirani Etika Ratna Noer Faiza, Arif Farid Agung Rahmadi, Farid Agung Fitri Hartanto Hapsari, Widawati Hardhono Susanto Hariyana, Bambang Hendriani Sellina Henry Setyawan Susanto Henry Setyawan Susanto Herman Kristanto Hesti Kartika Sari Ihat Hatimah Ika Rara Rosita Irawan Saputra, Gatot Isfandiyar Fahmi JC Susanto Julian Dewantiningrum Julian Dewantiningrum Jumianti Lestari Thamrin Kamilah Budhi Kamilah Budhi Rahardjani, Kamilah Budhi Kristiana Haryanti, Kristiana Kusuma Dewi, Anna Mailasari Latifah Rachmawati Leny Zabidi M. Supriatna M. Zen Rahfiludin Magdalena Sidhartani, Magdalena Maria Bramanwidyantari Maria Fatima Dete Dellu, Maria Fatima Dete Maria Martiani Martha Irene Kartasurya Mateus Sakundarno Mateus Sakundarno Mateus Sakundarno Adi, Mateus Sakundarno Miratul Haya MMDEAH Hapsari Mohamad Supriatna Mohammad Syarofil Anam Mohammad Syarofil Anam, Mohammad Syarofil Mohammad Zen Rahfiludin MS Anam Muflihatul Muniroh Muyassaroh Muyassaroh Neni Susilaningsih Ninung Kusumawati Ninung Rose Diana Kusumawati Noor Pramono Nurdiana Nurdiana Nurkukuh Nurkukuh Nurkukuh, Nurkukuh Nuryanto Nuryanto Nyoman Suci Widyastiti Panunggal, Damianus Galih Perdani, Putri Pratiwi, Juwita Pusaka, Semerdanta Rina Pratiwi Robi Andoyo Romadhona, Suci Rudy- susanto S.A. Nugraheni Saputra, Epriyan Sarjadi Sarjadi Sellina, Hendriani Soejoenoes, Ariawan Soemedi Hadiyanto Suci Romadhona Sudrajat, Agus Suhartono, Suhartono Suharyo Hadisaputro Suharyo Hadisaputro Susilawati, Martvera SyarofilAnam, Moh. T Mirza Iskandar Taro Yamauchi Taro Yamauchi Taro Yamauchi Taro Yamauchi Thamrin, Jumianti Lestari Wijaya, I Made Ananta Wistiani Wistiani Yetty M Nency Yoshimura, Aya Yudo Murti Mupangati Yulia Wahyuni Yusrina Istanti