Current Issue : October - December Volume : 2015 Issue Number : 4 Articles : 9 Articles
Background: Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can\nbe difficult and genetic testing may be warranted.\nCase: This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Her\ndiagnostic evaluation included genetic studies, which confirmed congenital hyperinsulinism. A novel combination\nof mutations in the ABCC8 gene leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism was\nidentified. Mutation analysis of ABCC8 showed three variants (R1215W ââ?¬â?? paternal, pathogenic; W739C ââ?¬â?? maternal,\nvariant of unknown significance; R1393L ââ?¬â?? maternal, variant of unknown significance). Her clinical course continues\nto be complicated by severe, refractory hypoglycemia at age 3 years.\nConclusion: We describe a novel compound heterozygous mutation leading to diffuse, diazoxide-unresponsive\ncongenital hyperinsulinism. This case illustrates challenges associated with diagnosing and managing congenital\nhyperinsulinism and the importance of genetic testing....
Culture had a profound influence on beliefs and practice of child birth. Cultural beliefs and traditions associated with pregnancy and child bearing touch all aspects of life in a given culture. A descriptive study was conducted to assess the cultural beliefs related to pregnancy and childbirth among women living in village Mohanpur, district Khanna, Punjab. A total of 200 women were selected with purposive sampling technique. Self structured checklist was implemented to assess the cultural beliefs among women related to pregnancy and child birth. Results showed that 94.5% of women had more cultural beliefs and 5.5% had less cultural beliefs. The cultural beliefs related to pregnancy and childbirth among women showed statistically significant relationship with type of family at p<0.05 level of significance....
Background: Rheumatic diseases of childhood, in particular juvenile idiopathic arthritis, are chronic conditions\nassociated with considerable morbidity and mortality that can have repercussions on aspects of adult life. The aim\nof this study was to determine the employment rate and social status of patients with childhood-onset rheumatic\ndisease attending a pediatric rheumatology transition unit.\nMethods: A census was taken of patients seen in the Pediatric Rheumatology Transition Unit of Hospital Vall\nd�Hebron (Barcelona, Spain). We collected demographic and clinical variables and determined the patients�\nfunctional capacity. All patients seen during the period of September to December 2013 underwent a survey\ncontaining items related to their social situation, maximum academic level achieved, and working life. Correlations\nwere sought between clinical variables associated with a poor prognosis and the patients� job performance. The\ndata were analyzed and compared with those of an age-matched cohort from the general population of Catalonia.\nResults: Of 130 patients included in the census, 96 responded to the survey. Steinbrocker grade III and IV disability\n(poorer functional capacity) (p = 0.0025) and longer disease duration (p = 0.017) were significantly related to greater\ndifficulty getting a job. Patients with grade III and IV disability and those with more severe disease showed trends\nto having more problems carrying out work-related tasks. Our cohort included a higher percentage of students than\nthe age-matched comparison population (50 % vs 24 %, respectively) (p = 0.0001); 82 % of patients had completed\nstudies beyond the compulsory education level. The employment rate was lower in our patient cohort than in the\ncomparison cohort (38.3 % vs 59.9 %) (p = 0.0001), whereas the percentage of unemployed was similar. Patients\nwith milder disease had a higher probability of living with their parents up to a later age (OR = 3.2, 95 % CI\n0.38-6.15; p = 0.029).\nConclusions: Despite the advances in treatment, some patients with childhood-onset rheumatic disease encounter\ndifficulties in their later social and working life. In our cohort, the time period needed to complete their studies\ntended to be longer, and incorporation into the workforce occurred at a later age. Our findings reinforce the idea\nthat psychological support and vocational guidance are important factors in the management of these patients....
Background: Invasive pneumococcal disease (IPD) results in high morbidity and mortality globally each year,\nalthough it is a vaccine-preventable disease. This study aimed to characterize the clinical features of IPD in a\npediatric intensive care unit (PICU) in Taiwan. The seven-valent pneumococcal conjugate vaccine (PCV7) was\nintroduced in the private sector in October 2005. The estimated coverage rate of PCV7 vaccination in 2010 was\n45.5 % among children <5 years of age.\nMethods: We conducted a retrospective study at a single center in northern Taiwan for invasive pneumococcal\ndisease in a PICU from 2009 to 2013. Demographic characteristics, clinical courses, serotype, antibiotic susceptibility,\nand outcomes were analyzed.\nResults: Over the 5-year study period, 2167 patients were admitted to the PICU; 48 (2.2 %) had IPD. There were 29\nfemale and 19 male patients. Their mean age was 3.7 years (range 0.7ââ?¬â??12.5 years, with the peak age at 2ââ?¬â??5 years;\nn = 30, 63 %). Pneumonia was the most frequent type (n = 38, 79 %), followed by meningitis (n = 10, 21 %). In total,\nthree patients died, all within 72 h after admission; the final diagnoses were all meningitis. Thirty-four children with\npneumonia received chest tube insertion for pleural effusion drainage. Of them, 22 (65 %) finally still underwent\nvideo-assisted thoracoscopic surgery. Eight (17 %) children had hemolytic uremic syndrome, and seven of them\nunderwent hemodialysis. In total, 37 serotypes were detected; 95 % were covered by PCV13. Serotype 19A was\nmost common (54 %) overall; however, in those with meningitis, serotype 19 F was most common.\nConclusions: Meningitis is the most severe type of invasive pneumococcal disease in our pediatric intensive care\nunit. It may progress rapidly even when subjects are given antibiotics promptly. The most common serotype in\nmeningitis is 19 F, which is vaccine preventable. Thus, universal mass pneumococcal vaccination is still needed....
Background: Juvenile idiopathic arthritis (JIA) is a chronic rheumatic disease. Patients suffer daily discomforts such\nas pain, fatigue, stiffness, and mood disturbances. Their exercise capacity is decreased to a variable degree and\nphysical activity levels may be impaired. To prevent long-term cardiovascular risks associated with JIA and\nmedication, it is important to encourage physical activity. To achieve this we developed Rheumates@Work (R@W),\na combined internet-based and in person instruction model, an interactive, educational, and cognitive behavioral\nprogram. The aim of this study is twofold: to describe the theoretical background and design of R@W based on\nPender�s Health Promotion Model, and to assess its acceptance.\nMethods: We enrolled 8 to 13-year-old JIA patients, from 3 outpatients clinics in The Netherlands, in R@W.\nInclusion criteria were a low disease activity (VAS physician <20 mm), comprehension of the Dutch language and\nabsence of relevant co-morbidity. We assessed acceptance by measuring the participants� commitment to the\nprogram, the level of interaction on patient�s initiative (f.e. mails send by the patient), technical aspects and\nsatisfaction. Commitment was defined as the percentage of participants that completed the assignments and how\nmuch encouragement the participants needed for this. Satisfaction was measured with an anonymous\nquestionnaire concerning f.e. time investment and perceived benefits. Costs were monitored.\nResults: Of the 64 patients we enrolled, 23 boys and 41 girls, 93.8 % completed the program. Participant-initiated\ninteraction was seen in 10.7 %, 24.7 % send a mail because of technical problems. Eighty-two percent of the\nparticipants and 99 % of the parents liked the program, and 85 % of the participants indicated that they had learnt\nsomething, or quite a lot. Development costs of the program were low.\nConclusion: The HPM is suitable for a behavioral intervention program such as R@W. Acceptance and satisfaction\nof R@W were high and the costs of the program were low....
To review the pediatric care and treatment program at Massey Street Children Hospital, in Lagos, Nigeria a retrospective analysis of medical records focusing on health services, survival and retention in care. Methods: The analysis covered a cohort of children initiated on antiretroviral therapy (ART) from 2005 to 2011. In this population, pediatric HIV care was defined as initiating ART between ages 0 and 14 years.\nTreatment initiation and follow-up were according to the Nigerian national guidelines for pediatric ART,\nwhich are based on World Health Organization guidelines adapted to our local context. The primary\nendpoint was mortality measured as cumulative survival. Other outcomes of interest included ââ?¬Å?loss to\nfollow-upââ?¬Â, ââ?¬Å?transferred outââ?¬Â, and ââ?¬Å?stopped treatmentââ?¬Â.\nResults: Mean (SD) age at ART initiation was 51 (39) months in female children and 52 (42) months in\nmale children. After seven years of ART care, 64 % of the 660 study children were retained in care and on\ntreatment, 16 % were lost to follow-up, 10 % were dead, and 9 % had discontinued HIV care at this facility\nfor other reasons. World Health Organization disease stage, CD4 count, age, and year of ART initiation were\nhighly predictive of mortality, while anemia at baseline was not statistically significantly associated.\nConclusions: Overall study results suggest a viable pediatric HIV program exists at the study facility. Retention\nrates were lowest for the earliest cohort of infected children, which implies long-term challenges. Mother-to-child\ntransmission programs need to be dynamic to stem the scourge of pediatric HIV in Nigeria....
Background: Arthritis is one of the most common manifestations of systemic lupus erythematosus (SLE). Although\ntypically non-erosive and non-deforming, children with SLE arthritis can have significant morbidity with decreased\nquality of life. Our goal was to identify potential clinical and laboratory predictors of arthritis in a cohort of pediatric\npatients with SLE.\nMethods: We performed a cohort study of incident and prevalent patients with SLE aged ? 19 years. In cross\nsectional analysis, we compared demographic and clinical characteristics at initial clinic presentation between\npatients with arthritis noted at any time during follow-up and those without arthritis. We performed time to event\nanalysis using Cox proportional hazard ratios to identify predictors of arthritis, clustering for repeated measures.\nResults: Forty seven children and adolescents with SLE were followed in the cohort, 91 % female and 68 % Black.\nIn cross-sectional analyses, presence of malar rash was associated with arthritis. In longitudinal analyses, controlling\nfor gender and race, increased age (HR: 1.4, 95 % CI: 1.1ââ?¬â??1.7), malar rash (HR: 2.1, 95 % CI: 1.1ââ?¬â??3.6), and presence of\nRNP antibodies (HR: 1.9, 95 % CI: 1.1ââ?¬â??3.4) were predictive of arthritis. When controlling for gender, race, and medication\nuse, anemia (HR: 8.5, 95 % CI: 2.9ââ?¬â??24.2) and thrombocytopenia (HR: 6.1, 95 % CI: 2.4ââ?¬â??15.6) were associated with\nincreased risk of arthritis.\nConclusions: We identified markers predictive of arthritis in a longitudinal cohort of children with SLE. The recognition\nof these markers may help clinicians identify patients at risk for arthritis before its onset thus improving quality of life in\nchildren with SLE....
Background: Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorders of steroid\nhormone synthesis.\nObjectives: To investigate the range of ratios and their predictive value in children with suspected disorders of\nsteroid synthesis.\nDesign and methods: Twelve ratios were calculated on steroid metabolite data analysed by gas\nchromatographyââ?¬â??mass spectrometry in urine samples collected between 2008ââ?¬â??2010 from 93 children. Urine\nsamples were also analysed in 252 children with no known endocrine concerns.\nResults: Of the 252 controls, 115 (46%) were male with a median age of 10 yr (range 1 month,18.5 years). Of the 93\ncases, 38 (41%) were male with a median age of 6.5 yr (1 day,18.5 yrs). Of these, 41 (44%) had at least one ratio\ngreater than the 95% percentile for controls. The most frequently abnormal ratio, found in 18/93 (19%) cases was\n(THS/(THE + THF + 5?THF)) suggestive of 11?-hydroxylase deficiency. Over this period, 8 (9%) children were\nsubsequently diagnosed with a steroid hormone disorder; 4 with 21-hydroxylase deficiency, 2 with11?-hydroxylase\ndeficiency and 2 with 5?-reductase deficiency. All except one of these children had at least 1 raised ratio.\nConclusions: Urinary steroid metabolite ratios in suspected disorders of hormone synthesis often exceed the\nreference range for normal children. The predictive value of steroid metabolite ratios in identifying a genetic\nabnormality may be condition specific and needs further study to improve its clinical utility....
Background: Pediatric pituitary adenomas are rare, accounting for <3 % of all childhood intracranial tumors, the\nmajority of which are prolactinomas. Consequently, they are often misdiagnosed as other suprasellar masses such\nas craniopharyngiomas in this age group. Whilst guidelines exist for the treatment of adult prolactinomas, the\nmanagement of childhood presentations of these benign tumors is less clear, particularly when dopamine agonist\ntherapy fails. Given their rarity, childhood-onset pituitary adenomas are more likely to be associated with a variety\nof genetic syndromes, the commonest being multiple endocrine neoplasia type 1 (MEN-1).\nCase description: We present a case of an early-onset, treatment-resistant giant prolactinoma occurring in an\n11-year-old peripubertal boy that was initially sensitive, but subsequently highly resistant to dopamine agonist\ntherapy, ultimately requiring multiple surgical debulking procedures and proton beam irradiation. Our patient is\nnow left with long-term tumor- and treatment-related neuroendocrine morbidities including blindness and\npanhypopituitarism. Only after multiple consultations and clinical data gained from 20-year-old medical records was\na complex, intergenerationally consanguineous family history revealed, compatible with MEN-1, with a splice site\nmutation (c.784-9G > A) being eventually identified in intron 4 of the MEN1 gene, potentially explaining the\ndifficulties in management of this tumor. Genetic counseling and screening has now been offered to the\nwider family.\nConclusions: This case emphasizes the need to consider pituitary adenomas in the differential diagnosis of all\npediatric suprasellar tumors by careful endocrine assessment and measurement of at least a serum prolactin\nconcentration. It also highlights the lack of evidence for the optimal management of pediatric drug-resistant\nprolactinomas. Finally, the case we describe demonstrates the importance of a detailed family history and the role\nof genetic testing for MEN1 and AIP mutations in all cases of pediatric pituitary adenoma....
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