OBJECTIVES: The overall survival of pediatric acute leukemia improved to >90% in developed countries with chemotherapy but relapse rates still remain at 10% to 20% in developed countries. This study aim to determine the risk factors for relapse in pediatric Standard Risk B Cell ALL. Specifically to describe and compare the socioclinical profile of patients under the relapse and non relapse group.

MATERIALS AND METHODS: Medical records of all children diagnosed with B Cell ALL were reviewed. Demographics and clinical data of patients who relapsed were compared to those who did not. The timing, site and outcome of patients who relapsed were noted. Risk factors for relapse were determined by logistic regression analysis to identify risk prognostic factors of relapse.

RESULTS: A total of 226 patients were included with 58 patients who relapsed and 168 who did not relapse. The mean age of diagnosis in both groups were 4y/o. Majority of the relapsed patients were male 35 (60%) and from outside NCR 35 (60%). Among the risk factors evaluated only the duration of chemotherapy induced agranulocytopenia of > 7 days was identified to be significant risk factor
for relapse, p value 0.001.

CONCLUSIONS: The present study determined that > 7 days duration of chemotherapy induced agranulocytopenia is a significant risk for relapse. Future studies with a larger population should be conducted to determine the factors for prolonged chemotherapy induced agranulocytopenia resulting to therapy interruptions that compromises treatment outcome. Cytogenetic and molecular approaches for relapsed ALL would help improve treatment strategies for these patients.

Human ; Male ; Female ; Child Preschool: 2-5 Yrs Old ; Bone Marrow ; Recurrence ; Drug Therapy ; Leukemia ; Diagnosis ; Survival

Objective Immunoglobulin G4-related hypertrophic pachymeningitis （IgG4-RHP） is a rare autoimmune disorder. This study aims to conduct a clinical analysis of seven cases with IgG4-RHP to enhance the understanding of this disease. Methods A retrospective analysis was conducted on seven patients diagnosed with IgG4-RHP. The demographic data， clinical manifestations， laboratory examinations， cerebrospinal fluid analysis， imaging， pathological manifestations， treatments， and efficacy analysis data were collected. Results The patients’ ages ranged from 38 to 67 years， with most being males. Headache （6/7） and cranial nerve palsies （5/7） were the most common clinical symptoms. Notably， one case presented with seizures and another with limb weakness. All patients exhibited elevated serum IgG4 levels （1.48-3.25 g/L）. Imaging studies revealed varying degrees of dural thickening and enhancement located in the global dura， tentorium cerebelli， cavernous sinus， and thoracic spinal dura. A definitive pathological diagnosis was obtained via biopsy （intracranial， nasal sinus， or orbital） in 3 patients. All patients received glucocorticoid therapy， with 5 receiving combined cyclophosphamide due to extensive or severe lesions. At the 6-month follow-up， 2 patients achieved complete response， 4 showed partial response， and 1 showed no response. During long-term follow-up， one patient experienced relapse during steroid tapering， which ended up in response again after immunosuppressive regimen adjustment. Conclusion IgG4-RHP is characterized by significant heterogeneous manifestations， which may involve the spinal cord or induce seizures. Diagnosis requires a combination of serological， radiological， and pathological results. While glucocorticoids with immunosuppressants are the main treatment measures， patients with long disease duration and significant fibrosis may respond poorly， highlighting the importance of early intervention and the exploration of novel therapies for refractory cases.
Diagnosis

BACKGROUND

Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.

OBJECTIVE

This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.

METHODS

The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.

RESULTS

Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder.

CONCLUSION

Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.

Human ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Child: 6-12 Yrs Old ; Adolescent: 13-18 Yrs Old ; Learning Disorders ; Brain ; Diagnosis

Glycogen storage disease type Ⅱ （GSD Ⅱ）， also known as Pompe disease， is a common autosomal recessive lysosomal storage disease with predominantly muscle tissue involvement， and it is caused by defects in the GAA gene which encode acid α-D-glucosidase in lysosomes. According to the age of onset and the main organs involved， it is classified into infant-onset Pompe disease （IOPD） and late-onset Pompe disease（LOPD）. The diagnosis of this disease depends on the reduction in GAA enzyme activity， the detection of GAA gene mutations， and muscle tissue biopsy， and early diagnosis and treatment are crucial for prognosis. Recombinant human GAA（rhGAA） enzyme replacement therapy prepared by the gene recombination technology is currently the main disease-modifying treatment method for Pompe disease， among which the earliest drug alglucosidase α has shown good efficacy in improving muscle strength and respiratory function and prolonging survival time， and the new-generation rhGAA drugs avalglucosidase α and cipaglucosidase alfa provide new options， especially for patients with poor outcomes and severe symptoms. Substrate ablation therapy and gene therapy are still under exploration， and disease-modifying therapies combined with nutritional and exercise therapies and multidisciplinary long-term management will achieve twice the result with half the effort.
Diagnosis

Mitochondrial diseases are a group of hereditary disorders characterized by impaired oxidative phosphorylation in the mitochondrial respiratory chain caused by defects in either mitochondrial DNA or nuclear DNA， and such diseases have complex and diverse clinical manifestations and often involve multiple organs and systems， with the main manifestation of lesions in the nervous system and muscles due to their high energy demands. At present， there is still a lack of effective therapies for most mitochondrial diseases， and therefore， multidisciplinary management is essential in clinical practice， integrating various therapeutic approaches to provide personalized treatment regimens for patients with mitochondrial diseases. The primary treatment principle involves the timely correction of pathological and physiological abnormalities through pharmacological interventions， dietary modifications， and exercise management， along with the prompt treatment of system-specific impairments and the prevention of potential complications.
Diagnosis

Migraine is the most common neurological disorder with the highest disease burden， while the current outpatient diagnosis and treatment model cannot meet the requirements for reducing the disease burden of migraine， and it is necessary to reexamine its management from a patient-centered perspective. It should be recognized that the course of migraine is a dynamic process，and some clinical manifestations that are not included in the diagnostic criteria are meaningful for diagnosis.Several risk factors for the chronicity of migraine have been identified.In addition， various comorbidities can also affect diagnosis and treatment，and it is still unable to reliably predict the treatment response of migraine.Therefore， the management of migraine requires continuous revision of diagnosis and “trial-and-error” treatment.
Diagnosis

Nonconvulsive status epilepticus （NCSE） is a state of persistent epileptic seizure characterized by disturbance of consciousness or major neurological deficits， without obvious limb convulsions. Due to a lack of obvious clinical manifestations and the potential risk of neurological damage， current research focuses on rapid identification， accurate classification， and optimization of treatment strategies. Since there is a lack of obvious motor symptoms in NCSE， it is difficult for clinicians to quickly identify the disease through traditional signs， which poses great challenges to diagnosis， and underdiagnosis may lead to delayed treatment and poor prognosis. This article systematically reviews the epidemiological characteristics， clinical manifestations， and key diagnostic points of NCSE and discusses existing treatment regimens and prognosis， in order to provide a reference for clinical practice.
Diagnosis

practice guideline ; literature ; diagnosis ; endometriosis

BACKGROUND OF THE STUDY

Post-obstructive diuresis (POD) is a common diagnosis among urologic patients that is medically diagnosed and managed. It is defined as urine production exceeding 200 mL per hour for two consecutive hours or producing greater than 3 L of urine in 24 hours. There is limited data on the risk factors of developing POD, but the need to identify such is important to prevent its complications such as dehydration, electrolyte imbalance, acute renal failure and even death.

OBJECTIVES

The study aims to identify clinical and renal predictors of developing POD. It also seeks to show the outcome of patients diagnosed with POD and its correlation with medical management.

METHOD

This is a retrospective study of all patients diagnosed with POD centered in the University of Santo Tomas Hospital from January 2017 to December 2018. Renal parameters such as serum creatinine, sodium, potassium, urea and ionized calcium were analyzed. Urinalysis and arterial blood gases were also noted and correlated.

RESULTS

Among a total of 106 patients with obstruction, 28.32% developed POD after decompression. The mean age is 58.2 ± 13.89, and most are male. Patients with POD have significantly longer days of obstruction (14 days, p = 0.049) compared to non-POD. Overweight patients comprise a significantly larger proportion of patients who had POD (p =CONCLUSION

POD occurs more likely among patients with a baseline AKI, low level of eGFR, longer duration of obstructions beyond 14 days and those with prostate cancer. Serum sodium and creatinine were higher among patients with POD. POD is associated with prolonged hospital stay, but obstruction relief leads to renal function improvement.

Human ; Diuresis ; Urine ; Diagnosis

Human ; Mass Screening ; Mothers ; Nuchal Translucency Measurement ; Prenatal Diagnosis