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Reeves Winters posted an update 6 months ago
Valsalva maneuvers have the potential to cause dermal capillary rupture manifesting as purpura and petechiae. We present a unique case of Valsalva purpura occurring in a 12-year-old girl after blowing up multiple balloons at a birthday party. Obtaining a detailed history proved essential to the diagnosis and curtailed any unnecessary workup or concern.Recessive congenital methemoglobinemia (RCM) is a rare neurological disorder caused by a deficiency in NADH-CYB5R. RCM has two main types I&II, with cyanosis being the hallmark feature in both. Type-I is a mild form, with cyanosis being the only feature. While type-II is the severe form with prominent neurological symptoms including, dystonia and spasticity. However, the cyanosis is subtle and difficult to appreciate. The cyanosis in RCM is treated with ascorbic-acid or methylene-blue. However, those treatments will not alter the neurological complication. In this paper, we report two cases of RCM type-II in Saudi siblings. They presented with cyanosis at birth; a CO-oximetry was done showing a high level of methemoglobin and a trail of methylene blue was used. The siblings were followed up and showed signs of developmental delay, hypotonia, exaggerated reflex, and seizure. A genetic analysis was requested, which showed missense mutation (c.274 C > T), leading to amino acid substitution; p. Arg92Trp.Full-term neonatal intussusception is rare. Cecal duplication as a lead point for intussusception is very rare. We report a case of full-term neonate with ileo-cecal intussusception due to cecal duplication. Although cecal duplication represents rarely a surgical emergency, intussusception always needs immediate attention. The awareness of this entity is essential for diagnosis and management.
The classification and pathogenic basis of juvenile idiopathic arthritis (JIA) are a subject of some controversy. Essentially, JIA is an exclusion diagnosis that represents a phenotypically heterogeneous group of arthritis of unknown origin. Familial aggregation of JIA supports the concept of genetic influence in the pathogenesis of JIA.
To present the spectrum of laccase domain-containing 1 (LACC1)-associated juvenile arthritis with clinical, biochemical, and molecular genetic data of a cohort of 43 patients, including 11 previously unpublished cases.
We studied 11 patients with different categories of juvenile idiopathic arthritis from 5 consanguineous families, all from Saudi Arabia, except 2 patients who were of Jordanian ethnicity. Whole-exome sequencing was used to identify the disease-causing variant of LACC1. We also reviewed the clinical spectrum and molecular genetic data of previously published cases of LACC1-associated juvenile arthritis.
This study describes 43 (29 females, 14 males) patit disorder.
This report expands the pathogenic variants of LACC1 and the clinical spectrum associated with this genetic subset of juvenile arthritis. The predominance of autosomal-recessive inheritance and strong genetic evidence allowed us to propose LACC1-associated juvenile arthritis as a distinct disorder.
Many studies have demonstrated that outcome in patients with hepatoblastoma is determined by tumor resectability and the presence or absence of metastatic disease.
To evaluate and disseminate information on diagnosis, treatment, and outcome of hepatoblastoma patients at a tertiary care hospital in Saudi Arabia.
Twenty-four pediatric patients with hepatoblastoma were treated at our institution between January 2005 and December 2012. The majority of our patients were stage III and above, while one-third of them presented with metastatic disease. Four (16.7%) had vascular invasion. NSC 23766 clinical trial Two-thirds of our patients (n=16, 66.7%) had alpha-fetoprotein (AFP) level above 100,000ng/mL. Twenty-one patients underwent surgery; two had upfront surgery before getting any chemotherapy, and 15 had surgery on schedule after pre-operative chemotherapy. Four patients had delayed surgery as the tumor was not resectable and received extra cycles of chemotherapy. Chemotherapy regimens used were based on SIOPEL study protocols unteved with complete tumor excision and adjuvant chemotherapy. Inability to perform surgical excision was the single most important predictor of mortality in our patients.
Each year nearly 10,000 children with thalassaemia major are born in India, but among them, very few are optimally managed mainly in urban regions even though the Government of India has incorporated their care and treatment in the 12th Five-Year Plan. Data on prescribing patterns and drug-related problems (DRPs) in paediatric thalassaemia patients in India are limited.
In this prospective interventional study, the medications prescribed were recorded after reviewing the treatment charts, thalassaemia register, thalassaemia card, nurses’ notes, as well as discharge summaries. When DRPs and/or medication errors were identified, the same was discussed with the concerned health care professionals and suitable suggestions were made at the earliest.
Out of the enrolled 54 patients, only 94% (n=51) of the patients received iron chelation therapy with deferasirox and/or deferiprone, Folic acid tablet was prescribed for 100% of the patients (n=54). Five percent of patients (n=3) had undergone splenectomy and was prescribed with amoxicillin prophylactically. There were a total of 16 DRPs and 15 medication errors were identified and suitable measurements were taken to solve these problems.
The prescribing patterns, DRPs and medication errors in transfusion-dependent paediatric thalassaemia patients were discussed in this study. Our study was effective in identifying and solving the DRPs and medication problems that occurred in thalassaemia patients.
The prescribing patterns, DRPs and medication errors in transfusion-dependent paediatric thalassaemia patients were discussed in this study. Our study was effective in identifying and solving the DRPs and medication problems that occurred in thalassaemia patients.
The imapct of Kangaroo Mother Care (KMC) in neonates is positively reported in the literature. However,several challenges hindered the wide-scale application of this practice.
To assess the levels of knowledge and competency of kangaroo mother care (KMC) among nurses and to identify the potential barriers to practice.
Structured web-based questionnaires were submitted to nurses working at neonatal intensive care units (NICUs) located in Riyadh, Saudi Arabia. The participants were asked to answer 23 questions distributed in four main domains, namely, demographic data, knowledge about KMC, practice levels, and barriers to KMC practice. For answers to the knowledge and barriers to practice domains, the mean scores (standard deviations) were calculated to present participants’ perceptions and beliefs from 1 (strongly disagree) to 5 (strongly agree).
Two hundred nine NICU nurses responded (95.2% females, 89.5% working in a government hospital, 69.9% obtained a Bachelor’s degree). The majority of respondents perceived KMC as promoting maternal-infant bonding (4.
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