Hyperphenylalaninemia can result from defects in either the phenylalanine hydroxylase (PAH) enzyme or in the synthesis or recycling of the active pterin, tetrahydrobiopterin (BH4), which is an obligate co-factor for the PAH enzyme, as well as tyrosine hydroxylase and tryptophan hydroxylase. One of the most common causes of BH4 deficiency is a defect in the synthesis of 6-pyruvoyltetrahydropterin synthase (PTPS) enzyme. Patients present with progressive neurological disease such as mental retardation, convulsions and disturbance of tone and posture despite strict adherence to diet and good metabolic control. The authors report the first two cases of PTPS deficiency in the Philippines. Both are females with initial phenylalanine levels of more than 1300 umol/L who continued to develop neurologic deterioration despite good metabolic control and strict adherence to diet. Further investigation showed that they both had PTPS deficiency. Treatment was started with BH4, L-dopa/carbidopa, and 5-hydroxytryptophan (5HT) with concomitant significant improvements in their neurologic and developmental outcomes.

Human ; Female ; Child Preschool ; Infant ; Phenylalanine Hydroxylase ; Carbidopa ; Tyrosine 3-monooxygenase ; 5-hydroxytryptophan ; Tryptophan Hydroxylase ; Levodopa ; Sapropterin ; Intellectual Disability ; Philippines ; Phenylketonurias ; Pterins ; Seizures ; Diet ; Posture

Objective: The aim of this study was to identify depression among HIV- infected patients attending Infectious Disease Clinic in University Malaya Medical Centre (UMMC). Methods: This is a cross sectional study on HIV- infected patients attending Infectious Disease Clinic, UMMC. Those who fulfilled inclusion criteria were recruited and interviewed. Socio- demographic characteristics and clinical conditions such as mode of transmission, year of diagnosis, CD4+ counts, drug treatment and clinical stage were collected. The patients were then subjected to self-administered questionnaires, Patient Health Questionnaire, (PHQ-9) and Hospital Anxiety & Depression Scale (HADS). Results: 89 patients were recruited. Scores from PHQ9 showed 32% of depression rate while scores from HADS showed 19% of depression rate among the respondents. Non-self financial supporter, non- alcoholic drinkers and females were more likely to be depressed (P<0.05). All clinical characteristics showed no statistical differences. Conclusion: The depression rate was lower compared to those from the studies in western countries. The risk factors for depression were different from those found in other studies as well.

Disorders of galactose metabolism can be fatal if not treated early. Newborn screening has made it possible to detect and treat this disease. Three cases of galactosemia, one with galactokinase deficiency and two with galactose-1-phosphate uridyltransferase deficiency detected by newborn screening, are presented. Because of early detection and management, the first patient was spared the early complications of galactosemia and continues to grow and develop normally. The two other patients were diagnosed at 1 month, initial presentation included hepatomegaly and failure to thrive. Institution of treatment was able to reverse the acute complications and both are currently doing well. The importance of galactosemia newborn screening in preventing complications resulting from the disease is emphasized.

Human ; Male ; Infant ; Infant Newborn ; Galactosemias ; Neonatal Screening ; Galactose ; Failure To Thrive ; Hepatomegaly ; Biological Phenomena ; Physiological Phenomena ; Early Diagnosis

Objective: To investigate the effect of latanoprost in IOP after laser iridectomy or filtering surgery Methodology: Patients of chronic angle closure glaucoma post laser iridectomy or filtering surgery were given latanoprost 0.005 percent eye drop in the evening for 2-6 weeks after a washout period ranging from 5 days - 28 days. IOP was measured at 9:00 a. m., 1:00 p.m. and 5: 00 p.m. per patient using a calibrated goldmann applanation tonometer Results: 29 patients were enrolled in study. There was a significant reduction in IOP among these patients Conclusion: Latanoprost 0.005 percent provides a significant reduction in IOP among patients with residual angle closure after laser iridectomy or filtering surgery. (Author)
Human ; Male ; Female ; LATANOPROST ; INTRAOCULAR PRESSURE/DRUG EFFECTS ; GLAUCOMA, ANGLE-CLOSURE ; GLAUCOMA, ANGLE-CLOSURE/DRUG THERAPY ; HUMANS ; MALE ; FEMALE ;

The pathophysiologic process of Alzheimer's disease (AD) begins years before the diagnosis of clinical dementia. This concept of preclinical AD has arisen from the observation of AD pathologic findings such as senile plaques and neurofibrillary tangles in the brains of people who at the time of death had normal cognitive function. Recent advances in biomarker studies now provide the ability to detect the pathologic changes of AD, which are antecedent to symptoms of the illness, in cognitively normal individuals. Functional and structural brain alterations that begin with amyloid-beta accumulation already show the patterns of abnormality seen in individuals with dementia due to AD. The presence of preclinical AD provides a critical opportunity for potential interventions with disease-modifying therapy. This review focuses on the studies of antecedent biomarkers for preclinical AD.
Aging ; Alzheimer Disease ; Biomarkers ; Brain ; Dementia ; Neurofibrillary Tangles ; Plaque, Amyloid

Cerebellitis is a rarely encountered complication of isoniazid therapy. Its occurrence is usually associated with concomitant renal disease and haemodialysis. Herein, we report the case of a patient with this complication who presented with isolated bilateral symmetrical dentate nucleus T2 hyperintensities on magnetic resonance imaging. Isoniazid neurotoxicity has never been reported to cause bilateral dentate hyperintensities, for which the differentials are few and include metronidazole toxicity.
Adult ; Antitubercular Agents ; adverse effects ; Cerebellar Diseases ; chemically induced ; Cerebellar Nuclei ; pathology ; Diagnosis, Differential ; Female ; Humans ; Isoniazid ; adverse effects ; Magnetic Resonance Imaging ; Renal Dialysis ; Renal Insufficiency ; therapy ; Tuberculosis ; drug therapy

BACKGROUND: Pollen grains have been reported to be present in the Philippine atmosphere but studies regarding their allergenicity are limited. OBJECTIVE: The present study aimed to profile the sensitization of allergic individuals to selected grass pollen species and to characterize the pollen proteins that may be responsible for this allergenic response. METHODS: The protein profile of the grass pollen extracts from Cynodon dactylon, Saccharum spontaneum, Sporobulus indicus, Chloris barbata, Oryza sativa, Imperata cylindrica, and Zea mays was analyzed by Sodium Dodecyl Sulphate Polyacrylamide Gel Electrophoresis. The specific-IgE profile of the allergic individuals and the allergenic potential of the pollen extracts were evaluated through Enzyme-linked Immunosorbent Assay and IgE immunoblotting. RESULTS: Sensitization of the allergic individuals to the pollen extracts was detected with I. cylindrica and O. sativa to be the most frequently recognized with more that 92% reactivity, whereas for C. dactylon and Z. mays, were found to have less than 25% reactivity. CONCLUSION: Multiple IgE-binding proteins from S. indicus, S. spontaneum and C. barbata that were detected may be responsible for the allergic reactions among Filipino subjects.
Atmosphere ; Cynodon ; Electrophoresis, Polyacrylamide Gel ; Enzyme-Linked Immunosorbent Assay ; Hypersensitivity ; Immunoblotting ; Immunoglobulin E ; Immunoglobulins ; Oryza ; Philippines ; Poaceae ; Pollen ; Saccharum ; Sodium ; Zea mays

The recognition of epileptic seizures in newborns is challenging as neonates exhibit a variety of paroxysmal motor phenomena, some epileptic but others not. The distinction, frequently requiring video-EEG monitoring, is crucial for management. Causes are often multi-factorial, specific to country/region, and change over time. Hypoxia-ischemia and infection are still common in both developed and developing countries. Venous and arterial strokes are being increasingly recognized. Treatable conditions, including inborn errors of metabolism, must be anticipated and considered early in the course. Etiology is the principal determinant of outcome. Management is based on uncontrolled studies and expert opinions. Information on neonatal seizures is reviewed, and suggestions for management provided. Phenobarbital remains the first anti-epileptic drug of choice, worldwide. Pharmacogenetic information and hepatic or renal dysfunction will influence doses of all drugs. The toxicity of excipients present in intravenous medicines should be kept in mind, especially when infusions are given to critically ill neonates. Therapeutic trials with pyridoxine or ideally pyridoxal phosphate, folinic acid and biotin should be considered early, if seizures are intractable. The management of electrographic seizures without clinical seizures needs critical study. When anti-epileptic drug treatment is required, maintenance should be for a short duration if seizures are of an acute symptomatic nature.
Anticonvulsants ; therapeutic use ; Diagnosis, Differential ; Electroencephalography ; Humans ; Infant, Newborn ; Seizures ; diagnosis ; drug therapy ; etiology

Objective. To present preliminary data on the effects of intravenous pamidronate in children with moderate to severe Osteogenesis Imperfecta (OI). Methods. This is a restrospective study wherein a review of medical records and available serial radiographs of children (N=14) with moderate to severe IO started on pamidronate from 2006 to 2010 was done. Results. Two children have IO Type I, 8 have IO Type III and 4 have IO Type IV. At baseline, 2 had normal height, 8 had height less than minus 2SD and the rest with less than minus 1SD. Twelve out of 14 had vertebral compression fractures. Mean age at start of pamidronate was 5.4 years (range 0.5-11 years). First infusion fever in five patients and transient generalized macular rash in one child were noted. Serum calcium and phosphorus levels were normal at baseline and remained stable. Based on parental report, improvement of motor function was noted. In the 10 children who had at least a year of treatment, long bone fractures decreased from mean annualized fracture rate of 2.6 at baseline to 0.9. In patients with vertebral compression fractures, serial radiographs showed improvement of vertebral shape. Conclusion. This preliminary study shows that treatment was generally well tolerated and led to decrease in long bone fractures, improved vertebral shape and improved function.
Human ; Male ; Female ; Child ; Child Preschool ; PAMIDRONATE ; OSTEOGENESIS IMPERFECTA ; MUSCULOSKELETAL DISEASES ; BONE DISEASES ; BONE DISEASES, DEVELOPMENTAL ; BONE DISEASES, METABOLIC ; OSTEOCHONDRODYSPLASIAS ; THERAPEUTICS ; THERAPY ; OSTEOPOROSIS