What Does the General Pediatrician Do When There Are Concerns for a Rare Disease?

Discussion Bardet-Biedl syndrome (BBS) is a rare disorder. It is usually considered an autosomal recessive disorder but there is significant intra-familial variability. There are multiple genes (~20 currently) involved and it is believed that the phenotypic variability is due to “…differences in the total mutational load across different BBS associated genes….” It is a ciliopathy where mutation changes in proteins in the cilias causes problems in the cilia’s functioning particularly signaling. Cilia are important in signaling to maintain tissue and cellular homeostasis. Obviously screening of affected family members would be important, particularly siblings as they would have ~25% chance of being affected. Genetic counseling for future pregnancies is also important. BBS is usually diagnosed with a patient having 4 primary features or 3 primary and 2 secondary features. Polydactyly will be present at birth but the other problems usually develop over the first 2 decades. Primary features Rod-cone dystrophy -> 90% affected, usually before adulthood and is usually the reason for most morbidity Obesity (central) – 72-92% affected, less severe in childhood but increases with age Polydactly – 63-81% affected Learning problems/Mental retardation – 50-61% affected with various learning problems, speech, intellectual disabilities and behavior problems Hypogonadism – 59-98% affected, males generally have micropenis and/or sma...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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Conclusions: WISC-III evaluated the cognitive performance in children, born preterm, aged 6-8 years old, and had neonatal ICH did not differ from those of their peers without a history of ICH. These findings suggest that, in preterm infants, a neonatal diagnosis of ICH may not be associated with cognitive performance at school age and this should be investigated through a longitudinal study.Resumo Objetivos: comparar o desempenho cognitivo de escolares, nascidos prematuramente, segundo a presen ça de hemorragia intracraniana (HIC) no período neonatal. Métodos: corte transversal de uma coorte de escolar...
Source: Revista Brasileira de Saude Materno Infantil - Category: Midwifery Source Type: research
Conclusions: the prevalence found was higher than that of other national researches, especially for the female gender. In the male gender, not having internet access, a lesser number of family members and a longer screen time proved to be factors associated with being excess weight.Resumo Objetivos: investigar a preval ência de excesso de peso e fatores associados entre adolescentes de uma comunidade de baixa renda situada na cidade do Recife, Pernambuco. Métodos: estudo transversal, em que foram coletadas informações demográficas, socioeconômicas e comportamentais no período ...
Source: Revista Brasileira de Saude Materno Infantil - Category: Midwifery Source Type: research
Publication date: 25 November 2019Source: Journal of Industrial and Engineering Chemistry, Volume 79Author(s): Hyo Eun Bae, Yeong Don Park, Tae-Hyun Kim, Taeho Lim, Oh Joong KwonAbstractThe development of low-cost catalysts for the oxygen reduction reaction is an important step for the commercialization of proton-exchange membrane fuel cells. Pd is a robust catalytic material for this reaction and is considered as an alternative to Pt due to its similarity with Pt. However, since Pd is oxidized at a lower positive potential than Pt, it is less active and less stable than Pt in an oxygen reduction reaction. We developed a s...
Source: Journal of Industrial and Engineering Chemistry - Category: Chemistry Source Type: research
CONCLUSIONS The findings from this study showed that the identifiable prognostic factors in patients with CCS were stage and tumor size. Local stage and tumor size ≤3 cm were favorable prognostic factors for patient survival in CCS. PMID: 31522190 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
Conclusion: The present study indicates a downward secular trend in the menarcheal age of the Saudi population. Moreover, a negative correlation between BMI and menarcheal age was also documented. PMID: 31522226 [PubMed - in process]
Source: Saudi Medical Journal - Category: Middle East Health Tags: Saudi Med J Source Type: research
Authors: Hao J, Dong B, Zhang J, Luo Z Abstract OBJECTIVES:   To evaluate whether pre-emptive analgesia is an effective technique to reduce postoperative delirium (PD) in geriatric patients with hip fracture. METHODS: This is a double-blind randomized clinical trial. Ninety elderly patients scheduled for hipfracture surgery at HongHui Hospital, Xi'an Jiaotong University, Xi'an, China  between March 2018 and January 2019 were divided into 2 groups. On arrival at the emergency department, the experimental group (n=44) received ultrasound-guided continuous fascia iliaca compartment block (...
Source: Saudi Medical Journal - Category: Middle East Health Tags: Saudi Med J Source Type: research
BACKGROUND: The first cause of death and disability constituting to the burden of disease in Iran has been accident and injury incidents. Young people are more at risk, these accidents have a negative effect on the national gross domestic product (GDP), on...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Publication date: Available online 16 September 2019Source: The American Journal of SurgeryAuthor(s): Minyoung Kwak, J. Hunter Mehaffey, Robert B. Hawkins, Angel Hsu, Bruce Schirmer, Peter T. HallowellAbstractIntroductionObesity is a risk factor for non-alcoholic steatohepatitis (NASH) and hepatocellular carcinoma (HCC). Bariatric surgery can provide durable weight-loss, but little is known about the later development of NASH and HCC after surgery.MethodsBariatric surgery (n=3,410) and obese controls (n=46,873) from an institutional data repository were propensity score matched 1:1 by demographics, comorbidities, BMI, and ...
Source: The American Journal of Surgery - Category: Surgery Source Type: research
' There's once again excitement about renal artery denervation and … it's justified,'says one cardiologist, while another hopes for FDA approval next year, and a third is'still not 100% convinced. 'theheart.org on Medscape
Source: Medscape General Surgery Headlines - Category: Surgery Tags: Cardiology Article Source Type: news
Condition:   Dyspnea Interventions:   Device: Focused ultrasound of the lungs (FLUS) and focused cardiac ultrasound (FoCUS);   Other: Standard care Sponsors:   Slagelse Hospital;   Odense University Hospital;   Holbaek Sygehus;   Zealand University Hospital;   Horsens Hospital;   Herning Hospital;   Hvidovre University Hospital Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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