Lysosomal diseases (LDs) are a group of rare inherited disorders belonging to inborn metabolism errors. LDs are characterized by the excessive storage of undegraded substrates, most often due to the enzymatic deficiency resulting from disease-causing gene variants. LDs lead to dysregulated cellular pathways and imbalanced molecular homeostasis and can affect multiple organs and tissues. Despite being rare, LDs account for a significant incidence when considered collectively. Due to complex molecular and genetic fingerprints, considerable challenges in LD management must be overcome. Diagnosis can be significantly delayed due to the broad and nonspecific clinical manifestations and the lack of specific biomarkers. Available treatments fail to fully stop the disease progression and can alter the disease's typical phenotypes with novel manifestations. Therefore, a paradigm shift is crucial to better understand LDs and provide actionable insights. Herein, we comprehensively review the literature to demonstrate that multi-omics approaches are promising for pathophysiology elucidation, biomarker discovery, and precision therapy in LDs. We recommend adopting longitudinal study designs integrated with a multi-omics-empowered framework to facilitate mechanistic delineation, biomarker discovery, and treatment development. Relevant approaches exploring the association between LDs and common neurodegenerative disorders are also discussed, paving a potential path for improved therapeutic development and ultimately improving the patient's quality of life.

The spread of tuberculosis (TB), especially multidrug-resistant TB and extensively drug-resistant TB, has strongly motivated the research and development of new anti-TB drugs. New strategies to facilitate drug combinations, including pharmacokinetics-guided dose optimization and toxicology studies of first- and second-line anti-TB drugs have also been introduced and recommended. Liquid chromatography-mass spectrometry (LC-MS) has arguably become the gold standard in the analysis of both endo- and exo-genous compounds. This technique has been applied successfully not only for therapeutic drug monitoring (TDM) but also for pharmacometabolomics analysis. TDM improves the effectiveness of treatment, reduces adverse drug reactions, and the likelihood of drug resistance development in TB patients by determining dosage regimens that produce concentrations within the therapeutic target window. Based on TDM, the dose would be optimized individually to achieve favorable outcomes. Pharmacometabolomics is essential in generating and validating hypotheses regarding the metabolism of anti-TB drugs, aiding in the discovery of potential biomarkers for TB diagnostics, treatment monitoring, and outcome evaluation. This article highlighted the current progresses in TDM of anti-TB drugs based on LC-MS bioassay in the last two decades. Besides, we discussed the advantages and disadvantages of this technique in practical use. The pressing need for non-invasive sampling approaches and stability studies of anti-TB drugs was highlighted. Lastly, we provided perspectives on the prospects of combining LC-MS-based TDM and pharmacometabolomics with other advanced strategies (pharmacometrics, drug and vaccine developments, machine learning/artificial intelligence, among others) to encapsulate in an all-inclusive approach to improve treatment outcomes of TB patients.

Background: Penetrating eye injury caused by mine explosion is a severe ophthalmologic injury. It is rare in Viet Nam and there were no studies on this type of injury. Objectives: To describe the clinical characteristics and evaluate the outcomes of surgery for penetrating eye injury caused by mine explosions. Subjects and method: The prospective analysis was conducted on 34 patients (36 eyes) with penetrating eye injury presented at the Trauma Department of Viet Nam National Institute of Ophthalmology. They were followed up for two years. Results: Out of the \r\n', u'34 patients, 31 were men (91.2%). Types of injury: corneal tear 93.8%, lens damage: 100%, vitreous damage: 56.3%, retinal detachment 25%, intraocular foreign body 72.2%. Initial visual acuity less than 0.02 was 96.9%. The final visual acuity was improved to better than 0.02 in 58.3% of patients. The intraocular pressures were normalized in 72.2% of patients after treatment. Conclusion: Penetrating eye injury caused by exploding mines has very severe clinical features. Despite of improvements in surgical techniques and instruments, the final visual acuity was still poor. The visual outcomes primarily depended on initial damages to the eye.\r\n', u'
Mine ; Penetrating eye injury ; Vitrectomy

Background: Alkali burns are severe injuries of the eyes. Recently, using topical steroid in treatment of ocular alkali burns has provided better outcomes. However, there is no study on treating ocular alkali burns by topical steroid in Vietnam. Objective: To describe the clinical characteristics and assess the outcome with topical steroid used in the treatment of ocular Alkali burns. Subject and Method: The author performed a prospective analysis of 45 alkali eye burns at the Trauma department of the National Institute of Ophalmology, Hanoi. All patients were treated with topical steroid and vitamin C. Results: There were 19 eyes were mild injures, 26 eyes were severe injuries. 32.5% had a good visual acuity. None of patients with severe injuries had a good visual acuity. Complications: corneal opacity: 42.2%, elevated IOP 17.8%. Conclusion: Treatment of ocular alkali burns with topical steroid and vitamin C is not associated with corneal perforating and provide a good outcome.
Alkali burn ; Steroid

Background: The post-traumatic glaucoma is a major cause inducing blindness of traumatic eyes. Recent, researches have shown that 5 fluoruoracil (5 FU) combined with surgery, which have a better result in treatment of general glaucoma and post-traumatic glaucoma. Objectives: To describe the clinical characteristics of post - traumatic glaucoma and assess the results of trabeculectomy with intra-operative application of 5 FU. Subject and methods: A descriptive, prospective analysis was taken on 32 patients, who had trabeculectomy with intra-operative application of 5 FU from August 2005 to December 2007 in the Traumatic Department of National Institute of Ophthalmology. Results: Post-traumatic glaucoma was seen mainly in young adults 71.9%; anterior angle recession combined lesions accounted for 25%; cataract 62.5%; fluid in anterior chamber 25%; anterior haemorrhage 37.5%. The intraocular pressure (lOP) was successfully controlled at least up to the following six months in 93.8% and the visual acuity was 0.02 and better in 62.5%. Conclusions: Trabeculectomy with antimetabolite therapy is an effective procedure in reducing IOP in post - traumatic glaucoma.
5 Fluorouracil ; post-traumatic glaucoma

Background: Viet Nam is located in the epidemiological region of Japanese Encephalitis (JE). JE vaccine manufactured in Viet Nam has been used in the national vaccination program since 2003, but there has been no scientific study on the effectiveness of this program in Ha Nam province. Objectives: To investigate the epidemiology of JE and effectiveness of vaccinations in Ha Nam province from 2001-2006. Subjects and method: All residents in Ha Nam province, with the key focus group being JE cases. The retrospective and prospective epidemiological descriptive method was used. Results: The records of 148 cases of JE were collected. Among them, 42.5% (63 cases) were confirmed as JE by MAC-ELISA. The incidence and mortality rate were 1.29/100,000 and 0.12/100,000, respectively. Confirmed JE cases were found annually in all districts of Ha Nam province. However, it has been in decline, especially since the vaccination program was implemented for 1-5 year old children. The disease occurred in the summer with the peak in May and June (80.9% of total cases). Most of the cases were children under 15 years old (98.4%). The highest incidence rate was 6.4/100,000; 5.5/100,000 and 5.3/100,000 in the children aged 5-9, 1-4 and under 1 year old, respectively. Conclusion: The vaccination program appeared effective in reducing the mortality and morbidity of JE among children in Ha Nam province.
Japanese Encephalitis ; epidemiology

Background: Severe penetrating eye injury is a common emergency in ophthalmology. Objectives: The evaluation results and complications following vitrectomy in severe penetrating injury in children. Subjects and method: This study included 136 eyes with penetrating eye injury, who were treated at the Trauma department of National Institute of Ophthalmology, Hanoi \ufffd?Vietnam from 1999-2000. Vitrectomy was performed through the limbal and pars plana in 135 patients, 105 boys and 30 girls. Results: Remove intraocular foreign body: 11%, procedure for retinal detachments: 14%. The common functional success (visual acuity of 5/2000 or better) rate was 55,1%. Functional success: absent retinal detachment: 60,7%; present: 21,1%. Anatomic success rate was 66,2%. 4 eyes (2,9%) were eviscerated. Complications of the surgery were: iridocyclite, edema of the cornea, hemorrhage, hyphema. Conclusion:Vitrectomy techniques showed its good effect in treating penetrating eye injury in children. Presence retinal damage and endophthalmitis have significant effect on the final visual outcomes.
Eye Injuries ; Penetrating/ surgery ; Vitrectomy ; Child ;

Background:The urocytogramme is a certain laboratory tests, although older. By studying the cellular elements from the wall of the bladder trigone desquamated in the urine, it allows cyto-hormonal diagnosis. It allows to assess the presence and importance of the biological effect of sex steroids. This examination is not commonly used because they are poorly known in our country. It's a review of how simple, noninvasive, inexpensive. Objectives:This study aims to learn about the value of urocytogramme in normal menstruation period of girls. Subjects and method:A study was conducted on 143 high school girls of Hai Ba Trung Secondary School, Hue city. The mean age was 15\xb18 months, completely puberty; the average weight was 45.7\xb16.8 kg; average height was 156.8 \xb18.5 cm. The duration of study was from September 2006 to May 2007. Results:Urocytogramme had the index which changed according to the phase of the menstrual cycle and correlated closely with sex hormone concentrations in the ovulatory phase. The IK index had the value in ovulation diagnostic phase with the sensitivity and specificity concentrations equivalent to LH and plasma Estradiol. Conclusion:Urocytogram was a useful test for the diagnosis of in normal menstruation period of adolescent girls. It was easy, cheap and truly reflected oestrogen activity to help doctors making decision for the treatment of lasting amenorrhea disorders.
Menstrual Cycle ; Adolescent

Background: Penetrating eye injury is common cause blind or many long-term complications later. One of the complications such as glaucoma in the eye. There were some research on glaucoma after penetrating eye injury, but no reports about the treatment of glaucoma. Objectives: To describe the clinical characteristics and assess the outcomes of surgery in the treatment of glaucoma after penetrating eye injury. Subjects and method: The author performed a prospective analysis of 32 eyes the underwent surgery causes by glaucoma after penetrating eye injury at Trauma department of National Institute of Ophthalmology. Follow up period: 6 months. Data was processed by using medical statistics methods on SPSS 10.5 software. Results: Of the 32 patients, 21 were men (65.6%) and 11 were women (34.4%). Localization of the injury: in the cornea 93.8%; lens damages 100%; vitreous organization 56.3%; retinal detachment 12.5%. Functional success (visual acuity >0.02): 18.8%, 4 eyes were enucleated. The normal intraocular pressure after surgery was 71.9%. Conclusion: The clinical characteristics of glaucoma after penetrating eye injury are complicated and multivariable. The rate of normal pressure after treatment was 71.9%.
Glaucoma/surgery ; Eye Injuries ; Penetrating ;

We review 31 consecutive cases of open-globe injuries in Trauma Department of National Institute of Ophthalmology from January 2000 to December 2000. All cases were done for microbial cultures. Results showed that among 27 males and 4 females ranged in age from 5 to 44 years, there were 10 cases of culture-positive. Gram-negative organisms and Staphylococcus were the most frequent. Final visual acuity was 5/200 of better in 8 patients (25.8%), counting fingers: 5 patients (16.1%), light perception in 12 patients (38.7%), phthisis bulb in 4 (12.9%), 2 eyes were eviscerated.
Endophthalmitis ; Wounds and Injuries ; Injuries