Cornelia de lange syndrome with thyroid agenesis of an indonesian patient.

Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. The prevalence ranges from 1:100,000 to as high as 1:10,000. Most cases (50-60%) were carried mutation in NIPBL gene. To our knowledge this is the first CdLs Indonesian case that reported with molecular analysis study. We present an 11 months old female Indonesian patient with classic CdLs with congenital hypothyroid. Genetics studies were performed in intron 1, exon 2, exon 10 and exon 22 of NIPBL gene. Thyroid studies (T3, T4, TSH and thyroid scan) were performed. Low level of T3 and T4, and high level of TSH were observed. Thyroid agenesis was found in thyroid scan examination. We detected thyroid agenesis which has been never reported in CdLs patients. We could not find any mutation in intron 1, exon 2, exon 10 and exon 22 of NIPBL gene. Further genetics examinations were necessary whether there is mutation in other locus.

Clinical standards for the management of adverse effects during treatment for TB.

BACKGROUND: Adverse effects (AE) to TB treatment cause morbidity, mortality and treatment interruption. The aim of these clinical standards is to encourage best practise for the diagnosis and management of AE.METHODS: 65/81 invited experts participated in a Delphi process using a 5-point Likert scale to score draft standards.RESULTS: We identified eight clinical standards. Each person commencing treatment for TB should: Standard 1, be counselled regarding AE before and during treatment; Standard 2, be evaluated for factors that might increase AE risk with regular review to actively identify and manage these; Standard 3, when AE occur, carefully assessed and possible allergic or hypersensitivity reactions considered; Standard 4, receive appropriate care to minimise morbidity and mortality associated with AE; Standard 5, be restarted on TB drugs after a serious AE according to a standardised protocol that includes active drug safety monitoring. In addition: Standard 6, healthcare workers should be trained on AE including how to counsel people undertaking TB treatment, as well as active AE monitoring and management; Standard 7, there should be active AE monitoring and reporting for all new TB drugs and regimens; and Standard 8, knowledge gaps identified from active AE monitoring should be systematically addressed through clinical research.CONCLUSION: These standards provide a person-centred, consensus-based approach to minimise the impact of AE during TB treatment.

Clinical standards for the dosing and management of TB drugs.

BACKGROUND: Optimal drug dosing is important to ensure adequate response to treatment, prevent development of drug resistance and reduce drug toxicity. The aim of these clinical standards is to provide guidance on 'best practice´ for dosing and management of TB drugs.METHODS: A panel of 57 global experts in the fields of microbiology, pharmacology and TB care were identified; 51 participated in a Delphi process. A 5-point Likert scale was used to score draft standards. The final document represents the broad consensus and was approved by all participants.RESULTS: Six clinical standards were defined: Standard 1, defining the most appropriate initial dose for TB treatment; Standard 2, identifying patients who may be at risk of sub-optimal drug exposure; Standard 3, identifying patients at risk of developing drug-related toxicity and how best to manage this risk; Standard 4, identifying patients who can benefit from therapeutic drug monitoring (TDM); Standard 5, highlighting education and counselling that should be provided to people initiating TB treatment; and Standard 6, providing essential education for healthcare professionals. In addition, consensus research priorities were identified.CONCLUSION: This is the first consensus-based Clinical Standards for the dosing and management of TB drugs to guide clinicians and programme managers in planning and implementation of locally appropriate measures for optimal person-centred treatment to improve patient care.

Outcome of tuberculous meningitis in children: the first comprehensive retrospective cohort study in Indonesia.

BACKGROUND: Tuberculous meningitis (TBM) is the most severe form of extra-pulmonary tuberculosis. OBJECTIVE: To assess hearing, visual, motor function, neurological and mental development outcomes in paediatric TBM. METHODS: A retrospective cohort study was conducted among 139 children with TBM registered and treated at the Department of Child Health, Dr Hasan Sadikin Hospital, Bandung, Indonesia, from January 2007 to December 2010. Hearing and visual function, appearance of optic disc, motor function, and neurological and mental development were evaluated. RESULTS: Of a final 128 patients (10 died during hospitalisation, 1 was excluded), 34 (26.5%) died after hospital discharge, the addresses of 58 patients could not be found and 7 parents refused to participate. The remaining 29 patients (16 males, 13 females) were available for evaluation; the mean age was 44 months (range 7-162). Hearing loss and visual impairment were identified in respectively 11/28 and 10/25 patients. Most patients had motor disorders. Delayed neurological and mental development was observed in nearly three quarters of patients, 11 of whom had normal or borderline intelligence quotient. CONCLUSIONS: TBM causes high mortality and sequelae involving hearing and visual impairment, and neurological and mental development.

Association of serum C-reactive protein and leptin levels with wasting in childhood tuberculosis.

INTRODUCTION: Wasting is a systemic manifestation of tuberculosis (TB) and is often thought to affect the severity and outcome of the disease. Leptin and several cytokines/proteins are thought to play a role in the relationship between TB, nutritional status and host immune response. The aim of this study was to determine the association of C-reactive protein (CRP), an inflammatory response protein and serum leptin levels with wasting in childhood TB. METHODS: A cross-sectional observational analytic study was conducted at two hospitals in West Java from January to March 2010. The subjects were 13 children aged 2-120 months who were infected with TB and 26 healthy children of the same age and gender as the comparison group. History-taking and anthropometric, physical, serum CRP and leptin examinations were conducted for each subject. The association of CRP and serum leptin levels with wasting in childhood TB was studied. RESULTS: Serum leptin levels were lower (95 percent confidence interval [CI] 314.0-1,228.9 pg/mL, p-value less than 0.001) and serum CRP levels were higher (95 percent CI 16.5-81.1 mg/L) in the subjects than in the comparison group. There were positive correlations between leptin and body mass index (p-value less than 0.001) and between CRP and wasting (p-value less than 0.001), but a negative correlation between leptin and wasting (p-value less than 0.001). CONCLUSION: Elevated serum CRP levels and a decrease in serum leptin levels are associated with an increase in wasting in childhood TB.