Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously. We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD). Our targeted gene panel compares favorably with other sequencing platforms. We found a total of 28 diagnostic genes that are implicated in DSD, highlighting the genetic spectrum of this disorder. Sequencing revealed 93 previously unreported DSD gene variants. Overall, we identified a likely genetic diagnosis in 43% of patients with 46,XY DSD. In patients with 46,XY disorders of androgen synthesis and action the genetic diagnosis rate reached 60%. Surprisingly, little difference in diagnostic rate was observed between singletons and trios. In many cases our findings are informative as to the likely cause of the DSD, which will facilitate clinical management. Our massively parallel sequencing targeted DSD gene panel represents an economical means of improving the genetic diagnostic capability for patients affected by DSD. Implementation of this panel in a large cohort of patients has expanded our understanding of the underlying genetic etiology of DSD. The inclusion of research candidate genes also provides an invaluable resource for future identification of novel genes.

Infectious diseases of the central nervous system (CNS) remain common and life-threatening, especially in developing countries. Knowledge of the aetiological agents responsible for these infections is essential to guide empiric therapy and develop a rational public health policy. To date most data has come from patients admitted to tertiary referral hospitals in Asia and there is limited aetiological data at the provincial hospital level where most patients are seen. We conducted a prospective Provincial Hospital-based descriptive surveillance study in adults and children at thirteen hospitals in central and southern Viet Nam between August 2007– April 2010. The pathogens of CNS infection were confirmed in CSF and blood samples by using classical microbiology, molecular diagnostics and serology. We recruited 1241 patients with clinically suspected infection of the CNS. An aetiological agent was identified in 640/1241 (52%) of the patients. The most common pathogens were Streptococcus suis serotype 2 in patients older than 14 years of age (147/617, 24%) and Japanese encephalitis virus in patients less than 14 years old (142/624, 23%). Mycobacterium tuberculosis was confirmed in 34/617 (6%) adult patients and 11/624 (2%) paediatric patients. The acute case fatality rate (CFR) during hospital admission was 73/617 (12%) in adults and to 42/624 (7%) in children. Zoonotic bacterial and viral pathogens are the most common causes of CNS infection in adults and children in Viet Nam.

Aim. To analyze the common cause of death in childhood acute lymphoblastic leukemia patients. Methods and Materials. A retrospective descriptive study on children with acute lymphoblastic leukemia who died at Hue Central Hospital between 2008 and 2018. All the patients were treated with the same protocol of modified Children’s Cancer Group 1882 and 1881. Results. A total of 238 children with acute lymphoblastic leukemia who were cared for at our center were enrolled. Of these, there were 74 deaths. Among the death group, the male-to-female ratio was 2.7:1. Twenty-six (35.1%) occurred in maintenance phase, 18 (24.3%) occurred in induction phase, and 9 (12.2%) occurred in delayed intensification. Infection was responsible for deaths in 32 of 74 (43.2%) cases. Pseudomonas aeruginosa was found in 3 of 32 infected cases (9.4%) and resistance to almost all antibiotics in our hospital. Relapse, abandonment, and bleeding were documented in 20 (27.0%), 7 (9.5%), and 6 (8.1%) cases, respectively. Twenty-seven (84.3%) patients had absolute neutrophil count <500/µL. Of 32 infectious deaths, pneumonia occurred in 40.6%. Regarding 20 relapse death, bone marrow was the major site of relapse and it occurred in 13 (65%) cases. And there were 65% patients with very early relapse. Conclusions. Infection is the major cause of mortality in acute lymphoblastic leukemia patients in our study. To improve outcome, we should improve supportive care, especially prevention and control infection.

BACKGROUND: Hyponаtremiа is the result of а negаtive sodium bаlаnce cаused by inаdequаte sаlt intаke or excessive sаlt loss due to immаture renаl or intestinаl function in preterm infаnts. AIM: The аim of our study was to define the incidence of аnd fаctors аffecting its development in preterm newborns. METHODS: This wаs а retrospective cohort аnаlysis of 126 preterm infаnts born before 36 weeks of gestаtion between June 2016 аnd July 2018 аt Neonаtаl Intensive Cаre Unit of Hue Centrаl Hospitаl, Vietnаm. Hyponаtremiа wаs defined аs а sodium level ≤ 132 mEq/L or 133-135 mEq/L with orаl sodium supplementаtion. We used the serum sodium level to define hyponаtremiа. RESULTS: There were 37 infаnts who hаd hyponаtremiа, аccounting for 29.4% of the infаnts enrolled in the study. А lower gestаtionаl аge, the presence of respirаtory distress syndrome, the use of furosemide, аnd feeding with breаst milk were significаnt risk fаctors for hyponаtremiа in preterm newborns. CONCLUSION: Hyponаtremiа occurred аt а relаtively high frequency. This result exemplifies the importаnce of serum sodium monitoring аnd supplementаtion for the correction of hyponаtremiа.

Objective: Our study aimed to summarize symptoms and laboratory findings of bacterial meningitis at a Vietnam tertiary care hospital. Methods: We performed a retrospective study and enrolled 33 children diagnosed with bacterial meningitis admitted at the Pediatric Center, Hue Central Hospital, between January 2019 and July 2021. Results: Only 24.2% (8 out of 33) cases can determine etiology of bacterial meningitis. Streptococcus pneumonia was the most common pathogen. The mortality in this study was 12.1%. The most commn symptoms were fever (93.9%) and vomiting (60.6%). Loss of consciousness and poor appetite were predominant among patients who died (75%); seizures and local paralysis accounted for a half. For cerebrospinal fluid (CSF), the cloudy or turbid color was the most common in bacterial meningitis (54.5%), CSF leucocytes in a half of patients were greater than 500 cells/mm³ (48.5%). CSF white blood cells count was higher among children who died. Conclusion: Streptococcus pneumonia was the most common pathogen. Fever, vomiting, loss of consciousness, local paralysis, and increased leucocytes, neutrophils of CSF were more common in severe cases.

Even though the treatment outcomes of childhood acute lymphoblastic leukemia (ALL) have improved recently, relapse of the disease still remains a challenge in developing countries. This study aims to analyze the incidence of relapse and survival rates in childhood ALL. A retrospective study of 156 children with de novo ALL between 2012-2018 was conducted. Data on age, gender, relapse type, and relapse time were analyzed. A total of 26 (16.7%) patients experienced relapse, with a male-to-female ratio of 2.71:1. The relapse rate in the high-risk group was 1.6 times greater than that in the standard-risk group (61.5% vs. 38.5%). The median time from diagnosis to relapse was 29.3 months (38.5% in the early stage, 26.9% in the intermediate, and 34.6% in the late stage). The most common relapse site was bone marrow (38.5%), followed by the isolated central nervous system (CNS, 23.1%) and CNS plus bone marrow (23.1%); the least common site was testicle with or without bone marrow or CNS (15.2%). The median post-relapse survival time was 7.5 months. Modification of the protocol to use escalated methotrexate dose and providing new therapies such as stem cell transplantation can improve the overall survival rates in relapsed ALL patients.